|
|
char = A;code = 65
char = ;code = 32
char = m;code = 109
char = u;code = 117
char = t;code = 116
char = a;code = 97
char = t;code = 116
char = i;code = 105
char = o;code = 111
char = n;code = 110
char = ;code = 32
char = i;code = 105
char = n;code = 110
char = ;code = 32
char = t;code = 116
char = h;code = 104
char = e;code = 101
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char = c;code = 99
char = a;code = 97
char = n;code = 110
char = a;code = 97
char = l;code = 108
char = i;code = 105
char = c;code = 99
char = u;code = 117
char = l;code = 108
char = a;code = 97
char = r;code = 114
char = ;code = 32
char = p;code = 112
char = h;code = 104
char = o;code = 111
char = s;code = 115
char = p;code = 112
char = h;code = 104
char = o;code = 111
char = l;code = 108
char = i;code = 105
char = p;code = 112
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char = d;code = 100
char = ;code = 32
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char = s;code = 115
char = p;code = 112
char = o;code = 111
char = r;code = 114
char = t;code = 116
char = e;code = 101
char = r;code = 114
char = ;code = 32
char = g;code = 103
char = e;code = 101
char = n;code = 110
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char = ;code = 32
char = A;code = 65
char = B;code = 66
char = C;code = 67
char = B;code = 66
char = 4;code = 52
char = ,;code = 44
char = ;code = 32
char = i;code = 105
char = s;code = 115
char = ;code = 32
char = a;code = 97
char = s;code = 115
char = s;code = 115
char = o;code = 111
char = c;code = 99
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char = a;code = 97
char = t;code = 116
char = e;code = 101
char = d;code = 100
char = ;code = 32
char = w;code = 119
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char = t;code = 116
char = h;code = 104
char = ;code = 32
char = c;code = 99
char = h;code = 104
char = o;code = 111
char = l;code = 108
char = e;code = 101
char = s;code = 115
char = t;code = 116
char = a;code = 97
char = s;code = 115
char = i;code = 105
char = s;code = 115
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char = ;code = 32
char = d;code = 100
char = u;code = 117
char = c;code = 99
char = t;code = 116
char = o;code = 111
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char = e;code = 101
char = n;code = 110
char = i;code = 105
char = a;code = 97
char = ,;code = 44
char = ;code = 32
char = a;code = 97
char = n;code = 110
char = d;code = 100
char = ;code = 32
char = c;code = 99
char = i;code = 105
char = r;code = 114
char = r;code = 114
char = h;code = 104
char = o;code = 111
char = s;code = 115
char = i;code = 105
char = s;code = 115
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char = i;code = 105
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char = a;code = 97
char = d;code = 100
char = u;code = 117
char = l;code = 108
char = t;code = 116
char = s;code = 115
char = .;code = 46
result sql = A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults.
A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults.char = <;code = 60
char = b;code = 98
char = >;code = 62
char = U;code = 85
char = N;code = 78
char = L;code = 76
char = A;code = 65
char = B;code = 66
char = E;code = 69
char = L;code = 76
char = L;code = 76
char = E;code = 69
char = D;code = 68
char = ;code = 32
char = :;code = 58
char = ;code = 32
char = <;code = 60
char = /;code = 47
char = b;code = 98
char = >;code = 62
char = C;code = 67
char = h;code = 104
char = o;code = 111
char = l;code = 108
char = e;code = 101
char = s;code = 115
char = t;code = 116
char = a;code = 97
char = t;code = 116
char = i;code = 105
char = c;code = 99
char = ;code = 32
char = l;code = 108
char = i;code = 105
char = v;code = 118
char = e;code = 101
char = r;code = 114
char = ;code = 32
char = d;code = 100
char = i;code = 105
char = s;code = 115
char = e;code = 101
char = a;code = 97
char = s;code = 115
char = e;code = 101
char = ;code = 32
char = (;code = 40
char = C;code = 67
char = L;code = 76
char = D;code = 68
char = );code = 41
char = ;code = 32
char = i;code = 105
char = s;code = 115
char = ;code = 32
char = a;code = 97
char = ;code = 32
char = m;code = 109
char = a;code = 97
char = j;code = 106
char = o;code = 111
char = r;code = 114
char = ;code = 32
char = c;code = 99
char = a;code = 97
char = u;code = 117
char = s;code = 115
char = e;code = 101
char = ;code = 32
char = o;code = 111
char = f;code = 102
char = ;code = 32
char = p;code = 112
char = r;code = 114
char = o;code = 111
char = g;code = 103
char = r;code = 114
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char = s;code = 115
char = s;code = 115
char = i;code = 105
char = v;code = 118
char = e;code = 101
char = ;code = 32
char = l;code = 108
char = i;code = 105
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char = e;code = 101
char = r;code = 114
char = ;code = 32
char = d;code = 100
char = a;code = 97
char = m;code = 109
char = a;code = 97
char = g;code = 103
char = e;code = 101
char = ;code = 32
char = a;code = 97
char = n;code = 110
char = d;code = 100
char = ;code = 32
char = l;code = 108
char = i;code = 105
char = v;code = 118
char = e;code = 101
char = r;code = 114
char = ;code = 32
char = f;code = 102
char = a;code = 97
char = i;code = 105
char = l;code = 108
char = u;code = 117
char = r;code = 114
char = e;code = 101
char = .;code = 46
char = ;code = 32
char = S;code = 83
char = e;code = 101
char = v;code = 118
char = e;code = 101
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char = a;code = 97
char = l;code = 108
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char = f;code = 102
char = o;code = 111
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char = m;code = 109
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char = o;code = 111
char = f;code = 102
char = ;code = 32
char = b;code = 98
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char = l;code = 108
char = i;code = 105
char = a;code = 97
char = r;code = 114
char = y;code = 121
char = ;code = 32
char = c;code = 99
char = i;code = 105
char = r;code = 114
char = r;code = 114
char = h;code = 104
char = o;code = 111
char = s;code = 115
char = i;code = 105
char = s;code = 115
char = ;code = 32
char = a;code = 97
char = r;code = 114
char = e;code = 101
char = ;code = 32
char = c;code = 99
char = a;code = 97
char = u;code = 117
char = s;code = 115
char = e;code = 101
char = d;code = 100
char = ;code = 32
char = b;code = 98
char = y;code = 121
char = ;code = 32
char = m;code = 109
char = u;code = 117
char = t;code = 116
char = a;code = 97
char = t;code = 116
char = i;code = 105
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char = s;code = 115
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char = i;code = 105
char = n;code = 110
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char = s;code = 115
char = p;code = 112
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char = c;code = 99
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char = f;code = 102
char = i;code = 105
char = c;code = 99
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char = g;code = 103
char = e;code = 101
char = n;code = 110
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char = .;code = 46
char = ;code = 32
char = W;code = 87
char = e;code = 101
char = ;code = 32
char = s;code = 115
char = o;code = 111
char = u;code = 117
char = g;code = 103
char = h;code = 104
char = t;code = 116
char = ;code = 32
char = t;code = 116
char = o;code = 111
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char = i;code = 105
char = d;code = 100
char = e;code = 101
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char = ;code = 32
char = a;code = 97
char = ;code = 32
char = g;code = 103
char = e;code = 101
char = n;code = 110
char = e;code = 101
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char = i;code = 105
char = c;code = 99
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char = d;code = 100
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char = f;code = 102
char = e;code = 101
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char = ;code = 32
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char = f;code = 102
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char = C;code = 67
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char = l;code = 108
char = e;code = 101
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char = t;code = 116
char = o;code = 111
char = ;code = 32
char = a;code = 97
char = s;code = 115
char = s;code = 115
char = i;code = 105
char = g;code = 103
char = n;code = 110
char = ;code = 32
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char = o;code = 111
char = ;code = 32
char = a;code = 97
char = ;code = 32
char = d;code = 100
char = i;code = 105
char = s;code = 115
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char = i;code = 105
char = n;code = 110
char = c;code = 99
char = t;code = 116
char = ;code = 32
char = p;code = 112
char = a;code = 97
char = t;code = 116
char = h;code = 104
char = o;code = 111
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char = e;code = 101
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char = i;code = 105
char = c;code = 99
char = ;code = 32
char = e;code = 101
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char = t;code = 116
char = i;code = 105
char = t;code = 116
char = y;code = 121
char = .;code = 46
char = ;code = 32
char = C;code = 67
char = l;code = 108
char = i;code = 105
char = n;code = 110
char = i;code = 105
char = c;code = 99
char = a;code = 97
char = l;code = 108
char = ;code = 32
char = a;code = 97
char = n;code = 110
char = d;code = 100
char = ;code = 32
char = h;code = 104
char = i;code = 105
char = s;code = 115
char = t;code = 116
char = o;code = 111
char = p;code = 112
char = a;code = 97
char = t;code = 116
char = h;code = 104
char = o;code = 111
char = l;code = 108
char = o;code = 111
char = g;code = 103
char = i;code = 105
char = c;code = 99
char = a;code = 97
char = l;code = 108
char = ;code = 32
char = c;code = 99
char = h;code = 104
char = a;code = 97
char = r;code = 114
char = a;code = 97
char = c;code = 99
char = t;code = 116
char = e;code = 101
char = r;code = 114
char = i;code = 105
char = z;code = 122
char = a;code = 97
char = t;code = 116
char = i;code = 105
char = o;code = 111
char = n;code = 110
char = ;code = 32
char = o;code = 111
char = f;code = 102
char = ;code = 32
char = t;code = 116
char = h;code = 104
char = e;code = 101
char = ;code = 32
char = f;code = 102
char = a;code = 97
char = m;code = 109
char = i;code = 105
char = l;code = 108
char = y;code = 121
char = ;code = 32
char = m;code = 109
char = e;code = 101
char = m;code = 109
char = b;code = 98
char = e;code = 101
char = r;code = 114
char = s;code = 115
char = ,;code = 44
char = ;code = 32
char = m;code = 109
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char = c;code = 99
char = r;code = 114
char = o;code = 111
char = a;code = 97
char = r;code = 114
char = r;code = 114
char = a;code = 97
char = y;code = 121
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char = b;code = 98
char = a;code = 97
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char = e;code = 101
char = d;code = 100
char = ;code = 32
char = s;code = 115
char = i;code = 105
char = n;code = 110
char = g;code = 103
char = l;code = 108
char = e;code = 101
char = -;code = 45
char = n;code = 110
char = u;code = 117
char = c;code = 99
char = l;code = 108
char = e;code = 101
char = o;code = 111
char = t;code = 116
char = i;code = 105
char = d;code = 100
char = e;code = 101
char = ;code = 32
char = p;code = 112
char = o;code = 111
char = l;code = 108
char = y;code = 121
char = m;code = 109
char = o;code = 111
char = r;code = 114
char = p;code = 112
char = h;code = 104
char = i;code = 105
char = s;code = 115
char = m;code = 109
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char = g;code = 103
char = e;code = 101
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char = o;code = 111
char = t;code = 116
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char = p;code = 112
char = i;code = 105
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char = ,;code = 44
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char = d;code = 100
char = ;code = 32
char = a;code = 97
char = n;code = 110
char = a;code = 97
char = l;code = 108
char = y;code = 121
char = s;code = 115
char = i;code = 105
char = s;code = 115
char = ;code = 32
char = o;code = 111
char = f;code = 102
char = ;code = 32
char = c;code = 99
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char = d;code = 100
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char = d;code = 100
char = a;code = 97
char = t;code = 116
char = e;code = 101
char = ;code = 32
char = g;code = 103
char = e;code = 101
char = n;code = 110
char = e;code = 101
char = s;code = 115
char = ;code = 32
char = w;code = 119
char = e;code = 101
char = r;code = 114
char = e;code = 101
char = ;code = 32
char = p;code = 112
char = e;code = 101
char = r;code = 114
char = f;code = 102
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char = m;code = 109
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char = d;code = 100
char = .;code = 46
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char = A;code = 65
char = m;code = 109
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char = i;code = 105
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char = 1;code = 49
char = 1;code = 49
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char = a;code = 97
char = f;code = 102
char = f;code = 102
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char = e;code = 101
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char = ;code = 32
char = b;code = 98
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char = i;code = 105
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char = a;code = 97
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char = h;code = 104
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char = C;code = 67
char = L;code = 76
char = D;code = 68
char = ;code = 32
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char = a;code = 97
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char = i;code = 105
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char = T;code = 84
char = r;code = 114
char = a;code = 97
char = n;code = 110
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char = y;code = 121
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char = a;code = 97
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char = s;code = 115
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char = d;code = 100
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char = o;code = 111
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char = a;code = 97
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char = o;code = 111
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char = t;code = 116
char = h;code = 104
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char = n;code = 110
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char = e;code = 101
char = n;code = 110
char = c;code = 99
char = e;code = 101
char = d;code = 100
char = ;code = 32
char = i;code = 105
char = n;code = 110
char = t;code = 116
char = r;code = 114
char = a;code = 97
char = h;code = 104
char = e;code = 101
char = p;code = 112
char = a;code = 97
char = t;code = 116
char = i;code = 105
char = c;code = 99
char = ;code = 32
char = c;code = 99
char = h;code = 104
char = o;code = 111
char = l;code = 108
char = e;code = 101
char = s;code = 115
char = t;code = 116
char = a;code = 97
char = s;code = 115
char = i;code = 105
char = s;code = 115
char = ;code = 32
char = o;code = 111
char = f;code = 102
char = ;code = 32
char = p;code = 112
char = r;code = 114
char = e;code = 101
char = g;code = 103
char = n;code = 110
char = a;code = 97
char = n;code = 110
char = c;code = 99
char = y;code = 121
char = ,;code = 44
char = ;code = 32
char = m;code = 109
char = i;code = 105
char = s;code = 115
char = c;code = 99
char = a;code = 97
char = r;code = 114
char = r;code = 114
char = i;code = 105
char = a;code = 97
char = g;code = 103
char = e;code = 101
char = s;code = 115
char = ,;code = 44
char = ;code = 32
char = o;code = 111
char = r;code = 114
char = ;code = 32
char = s;code = 115
char = t;code = 116
char = i;code = 105
char = l;code = 108
char = l;code = 108
char = b;code = 98
char = i;code = 105
char = r;code = 114
char = t;code = 116
char = h;code = 104
char = .;code = 46
char = ;code = 32
char = P;code = 80
char = e;code = 101
char = d;code = 100
char = i;code = 105
char = g;code = 103
char = r;code = 114
char = e;code = 101
char = e;code = 101
char = ;code = 32
char = s;code = 115
char = t;code = 116
char = u;code = 117
char = d;code = 100
char = i;code = 105
char = e;code = 101
char = s;code = 115
char = ;code = 32
char = r;code = 114
char = e;code = 101
char = v;code = 118
char = e;code = 101
char = a;code = 97
char = l;code = 108
char = e;code = 101
char = d;code = 100
char = ;code = 32
char = d;code = 100
char = i;code = 105
char = s;code = 115
char = t;code = 116
char = a;code = 97
char = n;code = 110
char = t;code = 116
char = ;code = 32
char = p;code = 112
char = a;code = 97
char = r;code = 114
char = e;code = 101
char = n;code = 110
char = t;code = 116
char = a;code = 97
char = l;code = 108
char = ;code = 32
char = c;code = 99
char = o;code = 111
char = n;code = 110
char = s;code = 115
char = a;code = 97
char = n;code = 110
char = g;code = 103
char = u;code = 117
char = i;code = 105
char = n;code = 110
char = i;code = 105
char = t;code = 116
char = y;code = 121
char = .;code = 46
char = ;code = 32
char = G;code = 71
char = e;code = 101
char = n;code = 110
char = o;code = 111
char = m;code = 109
char = e;code = 101
char = -;code = 45
char = w;code = 119
char = i;code = 105
char = d;code = 100
char = e;code = 101
char = ;code = 32
char = l;code = 108
char = i;code = 105
char = n;code = 110
char = k;code = 107
char = a;code = 97
char = g;code = 103
char = e;code = 101
char = ;code = 32
char = a;code = 97
char = n;code = 110
char = a;code = 97
char = l;code = 108
char = y;code = 121
char = s;code = 115
char = i;code = 105
char = s;code = 115
char = ;code = 32
char = a;code = 97
char = n;code = 110
char = d;code = 100
char = ;code = 32
char = a;code = 97
char = u;code = 117
char = t;code = 116
char = o;code = 111
char = z;code = 122
char = y;code = 121
char = g;code = 103
char = o;code = 111
char = s;code = 115
char = i;code = 105
char = t;code = 116
char = y;code = 121
char = ;code = 32
char = m;code = 109
char = a;code = 97
char = p;code = 112
char = p;code = 112
char = i;code = 105
char = n;code = 110
char = g;code = 103
char = ;code = 32
char = y;code = 121
char = i;code = 105
char = e;code = 101
char = l;code = 108
char = d;code = 100
char = e;code = 101
char = d;code = 100
char = ;code = 32
char = a;code = 97
char = ;code = 32
char = s;code = 115
char = i;code = 105
char = n;code = 110
char = g;code = 103
char = l;code = 108
char = e;code = 101
char = ;code = 32
char = m;code = 109
char = a;code = 97
char = x;code = 120
char = i;code = 105
char = m;code = 109
char = a;code = 97
char = l;code = 108
char = ;code = 32
char = l;code = 108
char = o;code = 111
char = d;code = 100
char = -;code = 45
char = s;code = 115
char = c;code = 99
char = o;code = 111
char = r;code = 114
char = e;code = 101
char = ;code = 32
char = o;code = 111
char = f;code = 102
char = ;code = 32
char = 3;code = 51
char = .;code = 46
char = 8;code = 56
char = 8;code = 56
char = ;code = 32
char = o;code = 111
char = n;code = 110
char = ;code = 32
char = c;code = 99
char = h;code = 104
char = r;code = 114
char = o;code = 111
char = m;code = 109
char = o;code = 111
char = s;code = 115
char = o;code = 111
char = m;code = 109
char = e;code = 101
char = ;code = 32
char = 7;code = 55
char = q;code = 113
char = 2;code = 50
char = 1;code = 49
char = .;code = 46
char = 1;code = 49
char = -;code = 45
char = 7;code = 55
char = q;code = 113
char = 2;code = 50
char = 2;code = 50
char = ,;code = 44
char = ;code = 32
char = e;code = 101
char = x;code = 120
char = c;code = 99
char = l;code = 108
char = u;code = 117
char = d;code = 100
char = i;code = 105
char = n;code = 110
char = g;code = 103
char = ;code = 32
char = o;code = 111
char = t;code = 116
char = h;code = 104
char = e;code = 101
char = r;code = 114
char = ;code = 32
char = g;code = 103
char = e;code = 101
char = n;code = 110
char = o;code = 111
char = m;code = 109
char = i;code = 105
char = c;code = 99
char = ;code = 32
char = l;code = 108
char = o;code = 111
char = c;code = 99
char = i;code = 105
char = .;code = 46
char = ;code = 32
char = S;code = 83
char = e;code = 101
char = q;code = 113
char = u;code = 117
char = e;code = 101
char = n;code = 110
char = c;code = 99
char = i;code = 105
char = n;code = 110
char = g;code = 103
char = ;code = 32
char = o;code = 111
char = f;code = 102
char = ;code = 32
char = A;code = 65
char = B;code = 66
char = C;code = 67
char = B;code = 66
char = 4;code = 52
char = ;code = 32
char = a;code = 97
char = t;code = 116
char = ;code = 32
char = t;code = 116
char = h;code = 104
char = i;code = 105
char = s;code = 115
char = ;code = 32
char = l;code = 108
char = o;code = 111
char = c;code = 99
char = u;code = 117
char = s;code = 115
char = ;code = 32
char = r;code = 114
char = e;code = 101
char = v;code = 118
char = e;code = 101
char = a;code = 97
char = l;code = 108
char = e;code = 101
char = d;code = 100
char = ;code = 32
char = a;code = 97
char = ;code = 32
char = n;code = 110
char = o;code = 111
char = v;code = 118
char = e;code = 101
char = l;code = 108
char = ;code = 32
char = m;code = 109
char = i;code = 105
char = s;code = 115
char = s;code = 115
char = e;code = 101
char = n;code = 110
char = s;code = 115
char = e;code = 101
char = ;code = 32
char = m;code = 109
char = u;code = 117
char = t;code = 116
char = a;code = 97
char = t;code = 116
char = i;code = 105
char = o;code = 111
char = n;code = 110
char = ;code = 32
char = c;code = 99
char = .;code = 46
char = 2;code = 50
char = 3;code = 51
char = 6;code = 54
char = 2;code = 50
char = C;code = 67
char = >;code = 62
char = T;code = 84
char = ;code = 32
char = (;code = 40
char = p;code = 112
char = .;code = 46
char = A;code = 65
char = r;code = 114
char = g;code = 103
char = 7;code = 55
char = 8;code = 56
char = 8;code = 56
char = T;code = 84
char = r;code = 114
char = p;code = 112
char = );code = 41
char = ;code = 32
char = w;code = 119
char = h;code = 104
char = i;code = 105
char = c;code = 99
char = h;code = 104
char = ;code = 32
char = c;code = 99
char = o;code = 111
char = s;code = 115
char = e;code = 101
char = g;code = 103
char = r;code = 114
char = e;code = 101
char = g;code = 103
char = a;code = 97
char = t;code = 116
char = e;code = 101
char = d;code = 100
char = ;code = 32
char = w;code = 119
char = i;code = 105
char = t;code = 116
char = h;code = 104
char = ;code = 32
char = s;code = 115
char = e;code = 101
char = v;code = 118
char = e;code = 101
char = r;code = 114
char = i;code = 105
char = t;code = 116
char = y;code = 121
char = ;code = 32
char = o;code = 111
char = f;code = 102
char = ;code = 32
char = d;code = 100
char = i;code = 105
char = s;code = 115
char = e;code = 101
char = a;code = 97
char = s;code = 115
char = e;code = 101
char = .;code = 46
char = ;code = 32
char = B;code = 66
char = i;code = 105
char = l;code = 108
char = e;code = 101
char = ;code = 32
char = f;code = 102
char = r;code = 114
char = o;code = 111
char = m;code = 109
char = ;code = 32
char = a;code = 97
char = ;code = 32
char = m;code = 109
char = u;code = 117
char = t;code = 116
char = a;code = 97
char = t;code = 116
char = i;code = 105
char = o;code = 111
char = n;code = 110
char = ;code = 32
char = h;code = 104
char = o;code = 111
char = m;code = 109
char = o;code = 111
char = z;code = 122
char = y;code = 121
char = g;code = 103
char = o;code = 111
char = t;code = 116
char = e;code = 101
char = ;code = 32
char = s;code = 115
char = h;code = 104
char = o;code = 111
char = w;code = 119
char = e;code = 101
char = d;code = 100
char = ;code = 32
char = a;code = 97
char = ;code = 32
char = r;code = 114
char = e;code = 101
char = d;code = 100
char = u;code = 117
char = c;code = 99
char = e;code = 101
char = d;code = 100
char = ;code = 32
char = p;code = 112
char = h;code = 104
char = o;code = 111
char = s;code = 115
char = p;code = 112
char = h;code = 104
char = a;code = 97
char = t;code = 116
char = i;code = 105
char = d;code = 100
char = y;code = 121
char = l;code = 108
char = c;code = 99
char = h;code = 104
char = o;code = 111
char = l;code = 108
char = i;code = 105
char = n;code = 110
char = e;code = 101
char = /;code = 47
char = b;code = 98
char = i;code = 105
char = l;code = 108
char = e;code = 101
char = ;code = 32
char = a;code = 97
char = c;code = 99
char = i;code = 105
char = d;code = 100
char = ;code = 32
char = r;code = 114
char = a;code = 97
char = t;code = 116
char = i;code = 105
char = o;code = 111
char = ,;code = 44
char = ;code = 32
char = c;code = 99
char = o;code = 111
char = n;code = 110
char = s;code = 115
char = i;code = 105
char = s;code = 115
char = t;code = 116
char = e;code = 101
char = n;code = 110
char = t;code = 116
char = ;code = 32
char = w;code = 119
char = i;code = 105
char = t;code = 116
char = h;code = 104
char = ;code = 32
char = r;code = 114
char = e;code = 101
char = d;code = 100
char = u;code = 117
char = c;code = 99
char = e;code = 101
char = d;code = 100
char = ;code = 32
char = A;code = 65
char = B;code = 66
char = C;code = 67
char = B;code = 66
char = 4;code = 52
char = ;code = 32
char = p;code = 112
char = h;code = 104
char = o;code = 111
char = s;code = 115
char = p;code = 112
char = h;code = 104
char = a;code = 97
char = t;code = 116
char = i;code = 105
char = d;code = 100
char = y;code = 121
char = l;code = 108
char = c;code = 99
char = h;code = 104
char = o;code = 111
char = l;code = 108
char = i;code = 105
char = n;code = 110
char = e;code = 101
char = ;code = 32
char = t;code = 116
char = r;code = 114
char = a;code = 97
char = n;code = 110
char = s;code = 115
char = p;code = 112
char = o;code = 111
char = r;code = 114
char = t;code = 116
char = ;code = 32
char = a;code = 97
char = c;code = 99
char = t;code = 116
char = i;code = 105
char = v;code = 118
char = i;code = 105
char = t;code = 116
char = y;code = 121
char = .;code = 46
char = <;code = 60
char = b;code = 98
char = r;code = 114
char = /;code = 47
char = >;code = 62
char = <;code = 60
char = b;code = 98
char = r;code = 114
char = /;code = 47
char = >;code = 62
char = <;code = 60
char = b;code = 98
char = >;code = 62
char = C;code = 67
char = O;code = 79
char = N;code = 78
char = C;code = 67
char = L;code = 76
char = U;code = 85
char = S;code = 83
char = I;code = 73
char = O;code = 79
char = N;code = 78
char = ;code = 32
char = :;code = 58
char = ;code = 32
char = <;code = 60
char = /;code = 47
char = b;code = 98
char = >;code = 62
char = W;code = 87
char = e;code = 101
char = ;code = 32
char = s;code = 115
char = h;code = 104
char = o;code = 111
char = w;code = 119
char = ;code = 32
char = t;code = 116
char = h;code = 104
char = a;code = 97
char = t;code = 116
char = ;code = 32
char = a;code = 97
char = ;code = 32
char = m;code = 109
char = i;code = 105
char = s;code = 115
char = s;code = 115
char = e;code = 101
char = n;code = 110
char = s;code = 115
char = e;code = 101
char = ;code = 32
char = m;code = 109
char = u;code = 117
char = t;code = 116
char = a;code = 97
char = t;code = 116
char = i;code = 105
char = o;code = 111
char = n;code = 110
char = ;code = 32
char = i;code = 105
char = n;code = 110
char = ;code = 32
char = A;code = 65
char = B;code = 66
char = C;code = 67
char = B;code = 66
char = 4;code = 52
char = ;code = 32
char = i;code = 105
char = s;code = 115
char = ;code = 32
char = a;code = 97
char = ;code = 32
char = c;code = 99
char = a;code = 97
char = u;code = 117
char = s;code = 115
char = e;code = 101
char = ;code = 32
char = f;code = 102
char = o;code = 111
char = r;code = 114
char = ;code = 32
char = d;code = 100
char = u;code = 117
char = c;code = 99
char = t;code = 116
char = o;code = 111
char = p;code = 112
char = e;code = 101
char = n;code = 110
char = i;code = 105
char = c;code = 99
char = ;code = 32
char = C;code = 67
char = L;code = 76
char = D;code = 68
char = ;code = 32
char = i;code = 105
char = n;code = 110
char = ;code = 32
char = a;code = 97
char = d;code = 100
char = u;code = 117
char = l;code = 108
char = t;code = 116
char = h;code = 104
char = o;code = 111
char = o;code = 111
char = d;code = 100
char = .;code = 46
char = ;code = 32
char = A;code = 65
char = l;code = 108
char = l;code = 108
char = e;code = 101
char = l;code = 108
char = i;code = 105
char = c;code = 99
char = ;code = 32
char = s;code = 115
char = t;code = 116
char = a;code = 97
char = t;code = 116
char = u;code = 117
char = s;code = 115
char = ;code = 32
char = c;code = 99
char = o;code = 111
char = r;code = 114
char = r;code = 114
char = e;code = 101
char = l;code = 108
char = a;code = 97
char = t;code = 116
char = e;code = 101
char = d;code = 100
char = ;code = 32
char = w;code = 119
char = i;code = 105
char = t;code = 116
char = h;code = 104
char = ;code = 32
char = s;code = 115
char = e;code = 101
char = v;code = 118
char = e;code = 101
char = r;code = 114
char = i;code = 105
char = t;code = 116
char = y;code = 121
char = ;code = 32
char = o;code = 111
char = f;code = 102
char = ;code = 32
char = l;code = 108
char = i;code = 105
char = v;code = 118
char = e;code = 101
char = r;code = 114
char = ;code = 32
char = d;code = 100
char = i;code = 105
char = s;code = 115
char = e;code = 101
char = a;code = 97
char = s;code = 115
char = e;code = 101
char = ;code = 32
char = r;code = 114
char = a;code = 97
char = n;code = 110
char = g;code = 103
char = i;code = 105
char = n;code = 110
char = g;code = 103
char = ;code = 32
char = f;code = 102
char = r;code = 114
char = o;code = 111
char = m;code = 109
char = ;code = 32
char = i;code = 105
char = n;code = 110
char = t;code = 116
char = r;code = 114
char = a;code = 97
char = h;code = 104
char = e;code = 101
char = p;code = 112
char = a;code = 97
char = t;code = 116
char = i;code = 105
char = c;code = 99
char = ;code = 32
char = c;code = 99
char = h;code = 104
char = o;code = 111
char = l;code = 108
char = e;code = 101
char = s;code = 115
char = t;code = 116
char = a;code = 97
char = s;code = 115
char = i;code = 105
char = s;code = 115
char = ;code = 32
char = o;code = 111
char = f;code = 102
char = ;code = 32
char = p;code = 112
char = r;code = 114
char = e;code = 101
char = g;code = 103
char = n;code = 110
char = a;code = 97
char = n;code = 110
char = c;code = 99
char = y;code = 121
char = ;code = 32
char = t;code = 116
char = h;code = 104
char = r;code = 114
char = o;code = 111
char = u;code = 117
char = g;code = 103
char = h;code = 104
char = ;code = 32
char = f;code = 102
char = i;code = 105
char = b;code = 98
char = r;code = 114
char = o;code = 111
char = s;code = 115
char = i;code = 105
char = s;code = 115
char = ;code = 32
char = t;code = 116
char = o;code = 111
char = ;code = 32
char = c;code = 99
char = i;code = 105
char = r;code = 114
char = r;code = 114
char = h;code = 104
char = o;code = 111
char = s;code = 115
char = i;code = 105
char = s;code = 115
char = ;code = 32
char = a;code = 97
char = n;code = 110
char = d;code = 100
char = ;code = 32
char = d;code = 100
char = e;code = 101
char = a;code = 97
char = t;code = 116
char = h;code = 104
char = ;code = 32
char = i;code = 105
char = n;code = 110
char = ;code = 32
char = c;code = 99
char = h;code = 104
char = i;code = 105
char = l;code = 108
char = d;code = 100
char = h;code = 104
char = o;code = 111
char = o;code = 111
char = d;code = 100
char = ;code = 32
char = a;code = 97
char = n;code = 110
char = d;code = 100
char = ;code = 32
char = a;code = 97
char = d;code = 100
char = u;code = 117
char = l;code = 108
char = t;code = 116
char = h;code = 104
char = o;code = 111
char = o;code = 111
char = d;code = 100
char = .;code = 46
char = ;code = 32
char = M;code = 77
char = u;code = 117
char = t;code = 116
char = a;code = 97
char = t;code = 116
char = i;code = 105
char = o;code = 111
char = n;code = 110
char = a;code = 97
char = l;code = 108
char = ;code = 32
char = a;code = 97
char = n;code = 110
char = a;code = 97
char = l;code = 108
char = y;code = 121
char = s;code = 115
char = i;code = 105
char = s;code = 115
char = ;code = 32
char = o;code = 111
char = f;code = 102
char = ;code = 32
char = A;code = 65
char = B;code = 66
char = C;code = 67
char = B;code = 66
char = 4;code = 52
char = ;code = 32
char = s;code = 115
char = h;code = 104
char = o;code = 111
char = u;code = 117
char = l;code = 108
char = d;code = 100
char = ;code = 32
char = b;code = 98
char = e;code = 101
char = ;code = 32
char = g;code = 103
char = e;code = 101
char = n;code = 110
char = e;code = 101
char = r;code = 114
char = a;code = 97
char = l;code = 108
char = l;code = 108
char = y;code = 121
char = ;code = 32
char = c;code = 99
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result sql = UNLABELLED : Cholestatic liver disease (CLD) is a major cause of progressive liver damage and liver failure. Several forms of biliary cirrhosis are caused by mutations in specific genes. We sought to identify a genetic defect in a family with CLD impossible to assign to a distinct pathogenic entity. Clinical and histopathological characterization of the family members, microarray-based single-nucleotide polymorphism genotyping, and analysis of candidate genes were performed. Among six of 11 siblings severely affected by idiopathic CLD in a family from a population isolate in Transylvania, three died of cirrhosis (aged 5, 7, and 43 years) and three had adult-onset disease with small duct cholangiopathy, including ductopenia. Others were mildly affected and experienced intrahepatic cholestasis of pregnancy, miscarriages, or stillbirth. Pedigree studies revealed distant parental consanguinity. Genome-wide linkage analysis and autozygosity mapping yielded a single maximal lod-score of 3.88 on chromosome 7q21.1-7q22, excluding other genomic loci. Sequencing of ABCB4 at this locus revealed a novel missense mutation c.2362C>T (p.Arg788Trp) which cosegregated with severity of disease. Bile from a mutation homozygote showed a reduced phosphatidylcholine/bile acid ratio, consistent with reduced ABCB4 phosphatidylcholine transport activity.
CONCLUSION : We show that a missense mutation in ABCB4 is a cause for ductopenic CLD in adulthood. Allelic status correlated with severity of liver disease ranging from intrahepatic cholestasis of pregnancy through fibrosis to cirrhosis and death in childhood and adulthood. Mutational analysis of ABCB4 should be generally considered in all patients with cholestatic liver disease of unknown etiology regardless of age and onset of disease.
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result sql = A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults.
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char = e;code = 101
char = d;code = 100
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char = 5;code = 53
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char = ;code = 32
char = 7;code = 55
char = ,;code = 44
char = ;code = 32
char = a;code = 97
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char = d;code = 100
char = ;code = 32
char = 4;code = 52
char = 3;code = 51
char = ;code = 32
char = y;code = 121
char = e;code = 101
char = a;code = 97
char = r;code = 114
char = s;code = 115
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char = ;code = 32
char = a;code = 97
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char = d;code = 100
char = ;code = 32
char = t;code = 116
char = h;code = 104
char = r;code = 114
char = e;code = 101
char = e;code = 101
char = ;code = 32
char = h;code = 104
char = a;code = 97
char = d;code = 100
char = ;code = 32
char = a;code = 97
char = d;code = 100
char = u;code = 117
char = l;code = 108
char = t;code = 116
char = -;code = 45
char = o;code = 111
char = n;code = 110
char = s;code = 115
char = e;code = 101
char = t;code = 116
char = ;code = 32
char = d;code = 100
char = i;code = 105
char = s;code = 115
char = e;code = 101
char = a;code = 97
char = s;code = 115
char = e;code = 101
char = ;code = 32
char = w;code = 119
char = i;code = 105
char = t;code = 116
char = h;code = 104
char = ;code = 32
char = s;code = 115
char = m;code = 109
char = a;code = 97
char = l;code = 108
char = l;code = 108
char = ;code = 32
char = d;code = 100
char = u;code = 117
char = c;code = 99
char = t;code = 116
char = ;code = 32
char = c;code = 99
char = h;code = 104
char = o;code = 111
char = l;code = 108
char = a;code = 97
char = n;code = 110
char = g;code = 103
char = i;code = 105
char = o;code = 111
char = p;code = 112
char = a;code = 97
char = t;code = 116
char = h;code = 104
char = y;code = 121
char = ,;code = 44
char = ;code = 32
char = i;code = 105
char = n;code = 110
char = c;code = 99
char = l;code = 108
char = u;code = 117
char = d;code = 100
char = i;code = 105
char = n;code = 110
char = g;code = 103
char = ;code = 32
char = d;code = 100
char = u;code = 117
char = c;code = 99
char = t;code = 116
char = o;code = 111
char = p;code = 112
char = e;code = 101
char = n;code = 110
char = i;code = 105
char = a;code = 97
char = .;code = 46
char = ;code = 32
char = O;code = 79
char = t;code = 116
char = h;code = 104
char = e;code = 101
char = r;code = 114
char = s;code = 115
char = ;code = 32
char = w;code = 119
char = e;code = 101
char = r;code = 114
char = e;code = 101
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char = m;code = 109
char = i;code = 105
char = l;code = 108
char = d;code = 100
char = l;code = 108
char = y;code = 121
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char = a;code = 97
char = f;code = 102
char = f;code = 102
char = e;code = 101
char = c;code = 99
char = t;code = 116
char = e;code = 101
char = d;code = 100
char = ;code = 32
char = a;code = 97
char = n;code = 110
char = d;code = 100
char = ;code = 32
char = e;code = 101
char = x;code = 120
char = p;code = 112
char = e;code = 101
char = r;code = 114
char = i;code = 105
char = e;code = 101
char = n;code = 110
char = c;code = 99
char = e;code = 101
char = d;code = 100
char = ;code = 32
char = i;code = 105
char = n;code = 110
char = t;code = 116
char = r;code = 114
char = a;code = 97
char = h;code = 104
char = e;code = 101
char = p;code = 112
char = a;code = 97
char = t;code = 116
char = i;code = 105
char = c;code = 99
char = ;code = 32
char = c;code = 99
char = h;code = 104
char = o;code = 111
char = l;code = 108
char = e;code = 101
char = s;code = 115
char = t;code = 116
char = a;code = 97
char = s;code = 115
char = i;code = 105
char = s;code = 115
char = ;code = 32
char = o;code = 111
char = f;code = 102
char = ;code = 32
char = p;code = 112
char = r;code = 114
char = e;code = 101
char = g;code = 103
char = n;code = 110
char = a;code = 97
char = n;code = 110
char = c;code = 99
char = y;code = 121
char = ,;code = 44
char = ;code = 32
char = m;code = 109
char = i;code = 105
char = s;code = 115
char = c;code = 99
char = a;code = 97
char = r;code = 114
char = r;code = 114
char = i;code = 105
char = a;code = 97
char = g;code = 103
char = e;code = 101
char = s;code = 115
char = ,;code = 44
char = ;code = 32
char = o;code = 111
char = r;code = 114
char = ;code = 32
char = s;code = 115
char = t;code = 116
char = i;code = 105
char = l;code = 108
char = l;code = 108
char = b;code = 98
char = i;code = 105
char = r;code = 114
char = t;code = 116
char = h;code = 104
char = .;code = 46
char = ;code = 32
char = P;code = 80
char = e;code = 101
char = d;code = 100
char = i;code = 105
char = g;code = 103
char = r;code = 114
char = e;code = 101
char = e;code = 101
char = ;code = 32
char = s;code = 115
char = t;code = 116
char = u;code = 117
char = d;code = 100
char = i;code = 105
char = e;code = 101
char = s;code = 115
char = ;code = 32
char = r;code = 114
char = e;code = 101
char = v;code = 118
char = e;code = 101
char = a;code = 97
char = l;code = 108
char = e;code = 101
char = d;code = 100
char = ;code = 32
char = d;code = 100
char = i;code = 105
char = s;code = 115
char = t;code = 116
char = a;code = 97
char = n;code = 110
char = t;code = 116
char = ;code = 32
char = p;code = 112
char = a;code = 97
char = r;code = 114
char = e;code = 101
char = n;code = 110
char = t;code = 116
char = a;code = 97
char = l;code = 108
char = ;code = 32
char = c;code = 99
char = o;code = 111
char = n;code = 110
char = s;code = 115
char = a;code = 97
char = n;code = 110
char = g;code = 103
char = u;code = 117
char = i;code = 105
char = n;code = 110
char = i;code = 105
char = t;code = 116
char = y;code = 121
char = .;code = 46
char = ;code = 32
char = G;code = 71
char = e;code = 101
char = n;code = 110
char = o;code = 111
char = m;code = 109
char = e;code = 101
char = -;code = 45
char = w;code = 119
char = i;code = 105
char = d;code = 100
char = e;code = 101
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char = l;code = 108
char = i;code = 105
char = n;code = 110
char = k;code = 107
char = a;code = 97
char = g;code = 103
char = e;code = 101
char = ;code = 32
char = a;code = 97
char = n;code = 110
char = a;code = 97
char = l;code = 108
char = y;code = 121
char = s;code = 115
char = i;code = 105
char = s;code = 115
char = ;code = 32
char = a;code = 97
char = n;code = 110
char = d;code = 100
char = ;code = 32
char = a;code = 97
char = u;code = 117
char = t;code = 116
char = o;code = 111
char = z;code = 122
char = y;code = 121
char = g;code = 103
char = o;code = 111
char = s;code = 115
char = i;code = 105
char = t;code = 116
char = y;code = 121
char = ;code = 32
char = m;code = 109
char = a;code = 97
char = p;code = 112
char = p;code = 112
char = i;code = 105
char = n;code = 110
char = g;code = 103
char = ;code = 32
char = y;code = 121
char = i;code = 105
char = e;code = 101
char = l;code = 108
char = d;code = 100
char = e;code = 101
char = d;code = 100
char = ;code = 32
char = a;code = 97
char = ;code = 32
char = s;code = 115
char = i;code = 105
char = n;code = 110
char = g;code = 103
char = l;code = 108
char = e;code = 101
char = ;code = 32
char = m;code = 109
char = a;code = 97
char = x;code = 120
char = i;code = 105
char = m;code = 109
char = a;code = 97
char = l;code = 108
char = ;code = 32
char = l;code = 108
char = o;code = 111
char = d;code = 100
char = -;code = 45
char = s;code = 115
char = c;code = 99
char = o;code = 111
char = r;code = 114
char = e;code = 101
char = ;code = 32
char = o;code = 111
char = f;code = 102
char = ;code = 32
char = 3;code = 51
char = .;code = 46
char = 8;code = 56
char = 8;code = 56
char = ;code = 32
char = o;code = 111
char = n;code = 110
char = ;code = 32
char = c;code = 99
char = h;code = 104
char = r;code = 114
char = o;code = 111
char = m;code = 109
char = o;code = 111
char = s;code = 115
char = o;code = 111
char = m;code = 109
char = e;code = 101
char = ;code = 32
char = 7;code = 55
char = q;code = 113
char = 2;code = 50
char = 1;code = 49
char = .;code = 46
char = 1;code = 49
char = -;code = 45
char = 7;code = 55
char = q;code = 113
char = 2;code = 50
char = 2;code = 50
char = ,;code = 44
char = ;code = 32
char = e;code = 101
char = x;code = 120
char = c;code = 99
char = l;code = 108
char = u;code = 117
char = d;code = 100
char = i;code = 105
char = n;code = 110
char = g;code = 103
char = ;code = 32
char = o;code = 111
char = t;code = 116
char = h;code = 104
char = e;code = 101
char = r;code = 114
char = ;code = 32
char = g;code = 103
char = e;code = 101
char = n;code = 110
char = o;code = 111
char = m;code = 109
char = i;code = 105
char = c;code = 99
char = ;code = 32
char = l;code = 108
char = o;code = 111
char = c;code = 99
char = i;code = 105
char = .;code = 46
char = ;code = 32
char = S;code = 83
char = e;code = 101
char = q;code = 113
char = u;code = 117
char = e;code = 101
char = n;code = 110
char = c;code = 99
char = i;code = 105
char = n;code = 110
char = g;code = 103
char = ;code = 32
char = o;code = 111
char = f;code = 102
char = ;code = 32
char = A;code = 65
char = B;code = 66
char = C;code = 67
char = B;code = 66
char = 4;code = 52
char = ;code = 32
char = a;code = 97
char = t;code = 116
char = ;code = 32
char = t;code = 116
char = h;code = 104
char = i;code = 105
char = s;code = 115
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char = l;code = 108
char = o;code = 111
char = c;code = 99
char = u;code = 117
char = s;code = 115
char = ;code = 32
char = r;code = 114
char = e;code = 101
char = v;code = 118
char = e;code = 101
char = a;code = 97
char = l;code = 108
char = e;code = 101
char = d;code = 100
char = ;code = 32
char = a;code = 97
char = ;code = 32
char = n;code = 110
char = o;code = 111
char = v;code = 118
char = e;code = 101
char = l;code = 108
char = ;code = 32
char = m;code = 109
char = i;code = 105
char = s;code = 115
char = s;code = 115
char = e;code = 101
char = n;code = 110
char = s;code = 115
char = e;code = 101
char = ;code = 32
char = m;code = 109
char = u;code = 117
char = t;code = 116
char = a;code = 97
char = t;code = 116
char = i;code = 105
char = o;code = 111
char = n;code = 110
char = ;code = 32
char = c;code = 99
char = .;code = 46
char = 2;code = 50
char = 3;code = 51
char = 6;code = 54
char = 2;code = 50
char = C;code = 67
char = >;code = 62
char = T;code = 84
char = ;code = 32
char = (;code = 40
char = p;code = 112
char = .;code = 46
char = A;code = 65
char = r;code = 114
char = g;code = 103
char = 7;code = 55
char = 8;code = 56
char = 8;code = 56
char = T;code = 84
char = r;code = 114
char = p;code = 112
char = );code = 41
char = ;code = 32
char = w;code = 119
char = h;code = 104
char = i;code = 105
char = c;code = 99
char = h;code = 104
char = ;code = 32
char = c;code = 99
char = o;code = 111
char = s;code = 115
char = e;code = 101
char = g;code = 103
char = r;code = 114
char = e;code = 101
char = g;code = 103
char = a;code = 97
char = t;code = 116
char = e;code = 101
char = d;code = 100
char = ;code = 32
char = w;code = 119
char = i;code = 105
char = t;code = 116
char = h;code = 104
char = ;code = 32
char = s;code = 115
char = e;code = 101
char = v;code = 118
char = e;code = 101
char = r;code = 114
char = i;code = 105
char = t;code = 116
char = y;code = 121
char = ;code = 32
char = o;code = 111
char = f;code = 102
char = ;code = 32
char = d;code = 100
char = i;code = 105
char = s;code = 115
char = e;code = 101
char = a;code = 97
char = s;code = 115
char = e;code = 101
char = .;code = 46
char = ;code = 32
char = B;code = 66
char = i;code = 105
char = l;code = 108
char = e;code = 101
char = ;code = 32
char = f;code = 102
char = r;code = 114
char = o;code = 111
char = m;code = 109
char = ;code = 32
char = a;code = 97
char = ;code = 32
char = m;code = 109
char = u;code = 117
char = t;code = 116
char = a;code = 97
char = t;code = 116
char = i;code = 105
char = o;code = 111
char = n;code = 110
char = ;code = 32
char = h;code = 104
char = o;code = 111
char = m;code = 109
char = o;code = 111
char = z;code = 122
char = y;code = 121
char = g;code = 103
char = o;code = 111
char = t;code = 116
char = e;code = 101
char = ;code = 32
char = s;code = 115
char = h;code = 104
char = o;code = 111
char = w;code = 119
char = e;code = 101
char = d;code = 100
char = ;code = 32
char = a;code = 97
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char = r;code = 114
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char = d;code = 100
char = u;code = 117
char = c;code = 99
char = e;code = 101
char = d;code = 100
char = ;code = 32
char = p;code = 112
char = h;code = 104
char = o;code = 111
char = s;code = 115
char = p;code = 112
char = h;code = 104
char = a;code = 97
char = t;code = 116
char = i;code = 105
char = d;code = 100
char = y;code = 121
char = l;code = 108
char = c;code = 99
char = h;code = 104
char = o;code = 111
char = l;code = 108
char = i;code = 105
char = n;code = 110
char = e;code = 101
char = /;code = 47
char = b;code = 98
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char = l;code = 108
char = e;code = 101
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char = a;code = 97
char = c;code = 99
char = i;code = 105
char = d;code = 100
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char = r;code = 114
char = a;code = 97
char = t;code = 116
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char = o;code = 111
char = ,;code = 44
char = ;code = 32
char = c;code = 99
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char = n;code = 110
char = s;code = 115
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char = s;code = 115
char = t;code = 116
char = e;code = 101
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char = t;code = 116
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char = w;code = 119
char = i;code = 105
char = t;code = 116
char = h;code = 104
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char = d;code = 100
char = u;code = 117
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char = e;code = 101
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char = A;code = 65
char = B;code = 66
char = C;code = 67
char = B;code = 66
char = 4;code = 52
char = ;code = 32
char = p;code = 112
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char = o;code = 111
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char = a;code = 97
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char = d;code = 100
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char = o;code = 111
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char = n;code = 110
char = e;code = 101
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char = t;code = 116
char = r;code = 114
char = a;code = 97
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char = s;code = 115
char = p;code = 112
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char = r;code = 114
char = t;code = 116
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char = i;code = 105
char = v;code = 118
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char = t;code = 116
char = y;code = 121
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char = <;code = 60
char = b;code = 98
char = r;code = 114
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char = >;code = 62
char = <;code = 60
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char = r;code = 114
char = /;code = 47
char = >;code = 62
char = <;code = 60
char = b;code = 98
char = >;code = 62
char = C;code = 67
char = O;code = 79
char = N;code = 78
char = C;code = 67
char = L;code = 76
char = U;code = 85
char = S;code = 83
char = I;code = 73
char = O;code = 79
char = N;code = 78
char = ;code = 32
char = :;code = 58
char = ;code = 32
char = <;code = 60
char = /;code = 47
char = b;code = 98
char = >;code = 62
char = W;code = 87
char = e;code = 101
char = ;code = 32
char = s;code = 115
char = h;code = 104
char = o;code = 111
char = w;code = 119
char = ;code = 32
char = t;code = 116
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char = a;code = 97
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char = ;code = 32
char = a;code = 97
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char = m;code = 109
char = i;code = 105
char = s;code = 115
char = s;code = 115
char = e;code = 101
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char = s;code = 115
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char = m;code = 109
char = u;code = 117
char = t;code = 116
char = a;code = 97
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char = i;code = 105
char = o;code = 111
char = n;code = 110
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char = i;code = 105
char = n;code = 110
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char = A;code = 65
char = B;code = 66
char = C;code = 67
char = B;code = 66
char = 4;code = 52
char = ;code = 32
char = i;code = 105
char = s;code = 115
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char = a;code = 97
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char = c;code = 99
char = a;code = 97
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char = s;code = 115
char = e;code = 101
char = ;code = 32
char = f;code = 102
char = o;code = 111
char = r;code = 114
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char = d;code = 100
char = u;code = 117
char = c;code = 99
char = t;code = 116
char = o;code = 111
char = p;code = 112
char = e;code = 101
char = n;code = 110
char = i;code = 105
char = c;code = 99
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char = C;code = 67
char = L;code = 76
char = D;code = 68
char = ;code = 32
char = i;code = 105
char = n;code = 110
char = ;code = 32
char = a;code = 97
char = d;code = 100
char = u;code = 117
char = l;code = 108
char = t;code = 116
char = h;code = 104
char = o;code = 111
char = o;code = 111
char = d;code = 100
char = .;code = 46
char = ;code = 32
char = A;code = 65
char = l;code = 108
char = l;code = 108
char = e;code = 101
char = l;code = 108
char = i;code = 105
char = c;code = 99
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char = s;code = 115
char = t;code = 116
char = a;code = 97
char = t;code = 116
char = u;code = 117
char = s;code = 115
char = ;code = 32
char = c;code = 99
char = o;code = 111
char = r;code = 114
char = r;code = 114
char = e;code = 101
char = l;code = 108
char = a;code = 97
char = t;code = 116
char = e;code = 101
char = d;code = 100
char = ;code = 32
char = w;code = 119
char = i;code = 105
char = t;code = 116
char = h;code = 104
char = ;code = 32
char = s;code = 115
char = e;code = 101
char = v;code = 118
char = e;code = 101
char = r;code = 114
char = i;code = 105
char = t;code = 116
char = y;code = 121
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char = o;code = 111
char = f;code = 102
char = ;code = 32
char = l;code = 108
char = i;code = 105
char = v;code = 118
char = e;code = 101
char = r;code = 114
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char = d;code = 100
char = i;code = 105
char = s;code = 115
char = e;code = 101
char = a;code = 97
char = s;code = 115
char = e;code = 101
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char = r;code = 114
char = a;code = 97
char = n;code = 110
char = g;code = 103
char = i;code = 105
char = n;code = 110
char = g;code = 103
char = ;code = 32
char = f;code = 102
char = r;code = 114
char = o;code = 111
char = m;code = 109
char = ;code = 32
char = i;code = 105
char = n;code = 110
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result sql = UNLABELLED : Cholestatic liver disease (CLD) is a major cause of progressive liver damage and liver failure. Several forms of biliary cirrhosis are caused by mutations in specific genes. We sought to identify a genetic defect in a family with CLD impossible to assign to a distinct pathogenic entity. Clinical and histopathological characterization of the family members, microarray-based single-nucleotide polymorphism genotyping, and analysis of candidate genes were performed. Among six of 11 siblings severely affected by idiopathic CLD in a family from a population isolate in Transylvania, three died of cirrhosis (aged 5, 7, and 43 years) and three had adult-onset disease with small duct cholangiopathy, including ductopenia. Others were mildly affected and experienced intrahepatic cholestasis of pregnancy, miscarriages, or stillbirth. Pedigree studies revealed distant parental consanguinity. Genome-wide linkage analysis and autozygosity mapping yielded a single maximal lod-score of 3.88 on chromosome 7q21.1-7q22, excluding other genomic loci. Sequencing of ABCB4 at this locus revealed a novel missense mutation c.2362C>T (p.Arg788Trp) which cosegregated with severity of disease. Bile from a mutation homozygote showed a reduced phosphatidylcholine/bile acid ratio, consistent with reduced ABCB4 phosphatidylcholine transport activity.
CONCLUSION : We show that a missense mutation in ABCB4 is a cause for ductopenic CLD in adulthood. Allelic status correlated with severity of liver disease ranging from intrahepatic cholestasis of pregnancy through fibrosis to cirrhosis and death in childhood and adulthood. Mutational analysis of ABCB4 should be generally considered in all patients with cholestatic liver disease of unknown etiology regardless of age and onset of disease.
Publication: Hepatology 2008 Oct ;48(4)::1157-66. :doi: 10.1002/hep.22485.
Publication Date: 2008 Oct
Study Author(s): Gotthardt, Daniel;Runz, Heiko;Keitel, Verena;Fischer, Christine;Flechtenmacher, Christa;Wirtenberger, Michael;Weiss, Karl Heinz;Imparato, Sandra;Braun, Annika;Hemminki, Kari;Stremmel, Wolfgang;Rüschendorf, Franz;Stiehl, Adolf;Kubitz, Ralf;Burwinkel, Barbara;Schirmacher, Peter;Knisely, A S;Zschocke, Johannes;Sauer, Peter;
Institution: Department of Internal Medicine IV, University Hospital of Heidelberg, Heidelberg, Germany. daniel.gotthardt@med.uni-heidelberg.de
Shortcut link to this study:
Publication Date: 2008 Oct
Study Author(s): Gotthardt, Daniel;Runz, Heiko;Keitel, Verena;Fischer, Christine;Flechtenmacher, Christa;Wirtenberger, Michael;Weiss, Karl Heinz;Imparato, Sandra;Braun, Annika;Hemminki, Kari;Stremmel, Wolfgang;Rüschendorf, Franz;Stiehl, Adolf;Kubitz, Ralf;Burwinkel, Barbara;Schirmacher, Peter;Knisely, A S;Zschocke, Johannes;Sauer, Peter;
Institution: Department of Internal Medicine IV, University Hospital of Heidelberg, Heidelberg, Germany. daniel.gotthardt@med.uni-heidelberg.de
Shortcut link to this study:
UNLABELLED : Cholestatic liver disease (CLD) is a major cause of progressive liver damage and liver failure. Several forms of biliary cirrhosis are caused by mutations in specific genes. We sought to identify a genetic defect in a family with CLD impossible to assign to a distinct pathogenic entity. Clinical and histopathological characterization of the family members, microarray-based single-nucleotide polymorphism genotyping, and analysis of candidate genes were performed. Among six of 11 siblings severely affected by idiopathic CLD in a family from a population isolate in Transylvania, three died of cirrhosis (aged 5, 7, and 43 years) and three had adult-onset disease with small duct cholangiopathy, including ductopenia. Others were mildly affected and experienced intrahepatic cholestasis of pregnancy, miscarriages, or stillbirth. Pedigree studies revealed distant parental consanguinity. Genome-wide linkage analysis and autozygosity mapping yielded a single maximal lod-score of 3.88 on chromosome 7q21.1-7q22, excluding other genomic loci. Sequencing of ABCB4 at this locus revealed a novel missense mutation c.2362C>T (p.Arg788Trp) which cosegregated with severity of disease. Bile from a mutation homozygote showed a reduced phosphatidylcholine/bile acid ratio, consistent with reduced ABCB4 phosphatidylcholine transport activity.
CONCLUSION : We show that a missense mutation in ABCB4 is a cause for ductopenic CLD in adulthood. Allelic status correlated with severity of liver disease ranging from intrahepatic cholestasis of pregnancy through fibrosis to cirrhosis and death in childhood and adulthood. Mutational analysis of ABCB4 should be generally considered in all patients with cholestatic liver disease of unknown etiology regardless of age and onset of disease.
CONCLUSION : We show that a missense mutation in ABCB4 is a cause for ductopenic CLD in adulthood. Allelic status correlated with severity of liver disease ranging from intrahepatic cholestasis of pregnancy through fibrosis to cirrhosis and death in childhood and adulthood. Mutational analysis of ABCB4 should be generally considered in all patients with cholestatic liver disease of unknown etiology regardless of age and onset of disease.
PMID: 18781607
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