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result sql = Novel null-allele mutations and genotype-phenotype correlation in Argentinean patients with erythropoietic protoporphyria.
Novel null-allele mutations and genotype-phenotype correlation in Argentinean patients with erythropoietic protoporphyria.
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char = n;code = 110
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char = g;code = 103
char = a;code = 97
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char = T;code = 84
char = h;code = 104
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char = s;code = 115
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char = i;code = 105
char = s;code = 115
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char = s;code = 115
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char = g;code = 103
char = e;code = 101
char = n;code = 110
char = e;code = 101
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char = r;code = 114
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char = n;code = 110
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char = a;code = 97
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char = i;code = 105
char = o;code = 111
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char = .;code = 46
char = ;code = 32
char = <;code = 60
char = b;code = 98
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char = I;code = 73
char = N;code = 78
char = ;code = 32
char = F;code = 70
char = I;code = 73
char = V;code = 86
char = E;code = 69
char = ;code = 32
char = A;code = 65
char = R;code = 82
char = G;code = 71
char = E;code = 69
char = N;code = 78
char = T;code = 84
char = I;code = 73
char = N;code = 78
char = E;code = 69
char = A;code = 65
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char = ;code = 32
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char = P;code = 80
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char = L;code = 76
char = I;code = 73
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char = W;code = 87
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char = ;code = 32
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char = E;code = 69
char = T;code = 84
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char = C;code = 67
char = T;code = 84
char = E;code = 69
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char = T;code = 84
char = H;code = 72
char = R;code = 82
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char = E;code = 69
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char = O;code = 79
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char = L;code = 76
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char = M;code = 77
char = U;code = 85
char = T;code = 84
char = A;code = 65
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char = I;code = 73
char = O;code = 79
char = N;code = 78
char = S;code = 83
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char = ;code = 32
char = <;code = 60
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char = d;code = 100
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char = e;code = 101
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char = e;code = 101
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char = r;code = 114
char = o;code = 111
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char = u;code = 117
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char = a;code = 97
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char = e;code = 101
char = d;code = 100
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char = 1;code = 49
char = 8;code = 56
char = ;code = 32
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char = o;code = 111
char = d;code = 100
char = o;code = 111
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char = ;code = 32
char = d;code = 100
char = o;code = 111
char = w;code = 119
char = n;code = 110
char = s;code = 115
char = t;code = 116
char = r;code = 114
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char = r;code = 114
char = o;code = 111
char = m;code = 109
char = ;code = 32
char = t;code = 116
char = h;code = 104
char = e;code = 101
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char = u;code = 117
char = t;code = 116
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char = t;code = 116
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char = o;code = 111
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char = a;code = 97
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char = ;code = 32
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char = w;code = 119
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char = c;code = 99
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char = n;code = 110
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char = m;code = 109
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char = t;code = 116
char = a;code = 97
char = t;code = 116
char = i;code = 105
char = o;code = 111
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char = s;code = 115
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char = ;code = 32
char = I;code = 73
char = V;code = 86
char = S;code = 83
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char = p;code = 112
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char = c;code = 99
char = a;code = 97
char = u;code = 117
char = s;code = 115
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char = s;code = 115
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char = e;code = 101
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char = o;code = 111
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char = s;code = 115
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char = o;code = 111
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char = ;code = 32
char = t;code = 116
char = h;code = 104
char = e;code = 101
char = ;code = 32
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char = i;code = 105
char = r;code = 114
char = s;code = 115
char = t;code = 116
char = ;code = 32
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char = 8;code = 56
char = ;code = 32
char = b;code = 98
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char = ;code = 32
char = o;code = 111
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char = ;code = 32
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char = ;code = 32
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char = <;code = 60
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char = r;code = 114
char = /;code = 47
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char = <;code = 60
char = b;code = 98
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char = W;code = 87
char = E;code = 69
char = ;code = 32
char = A;code = 65
char = L;code = 76
char = S;code = 83
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char = ;code = 32
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char = O;code = 79
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char = D;code = 68
char = ;code = 32
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char = W;code = 87
char = O;code = 79
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char = O;code = 79
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char = L;code = 76
char = Y;code = 89
char = ;code = 32
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char = E;code = 69
char = S;code = 83
char = C;code = 67
char = R;code = 82
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char = E;code = 69
char = D;code = 68
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char = M;code = 77
char = U;code = 85
char = T;code = 84
char = A;code = 65
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char = I;code = 73
char = O;code = 79
char = N;code = 78
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char = ;code = 32
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char = /;code = 47
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char = >;code = 62
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char = 3;code = 51
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char = 3;code = 51
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char = ;code = 32
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char = 0;code = 48
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char = e;code = 101
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char = A;code = 65
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char = i;code = 105
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char = o;code = 111
char = d;code = 100
char = u;code = 117
char = c;code = 99
char = e;code = 101
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char = s;code = 115
char = t;code = 116
char = o;code = 111
char = p;code = 112
char = ;code = 32
char = c;code = 99
char = o;code = 111
char = d;code = 100
char = o;code = 111
char = n;code = 110
char = s;code = 115
char = .;code = 46
char = ;code = 32
char = A;code = 65
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char = l;code = 108
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char = p;code = 112
char = a;code = 97
char = t;code = 116
char = i;code = 105
char = e;code = 101
char = n;code = 110
char = t;code = 116
char = s;code = 115
char = ;code = 32
char = h;code = 104
char = a;code = 97
char = d;code = 100
char = ;code = 32
char = a;code = 97
char = n;code = 110
char = ;code = 32
char = F;code = 70
char = E;code = 69
char = C;code = 67
char = H;code = 72
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 = 32
char = 2;code = 50
char = 5;code = 53
char = %;code = 37
char = ;code = 32
char = o;code = 111
char = f;code = 102
char = ;code = 32
char = n;code = 110
char = o;code = 111
char = r;code = 114
char = m;code = 109
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 = a;code = 97
char = l;code = 108
char = s;code = 115
char = o;code = 111
char = ;code = 32
char = h;code = 104
char = a;code = 97
char = d;code = 100
char = ;code = 32
char = t;code = 116
char = h;code = 104
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
char = s;code = 115
char = ;code = 32
char = -;code = 45
char = 2;code = 50
char = 5;code = 53
char = 1;code = 49
char = A;code = 65
char = >;code = 62
char = G;code = 71
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
char = ;code = 32
char = p;code = 112
char = r;code = 114
char = o;code = 111
char = m;code = 109
char = o;code = 111
char = t;code = 116
char = e;code = 101
char = r;code = 114
char = ;code = 32
char = r;code = 114
char = e;code = 101
char = g;code = 103
char = i;code = 105
char = o;code = 111
char = n;code = 110
char = ;code = 32
char = a;code = 97
char = n;code = 110
char = d;code = 100
char = ;code = 32
char = I;code = 73
char = V;code = 86
char = S;code = 83
char = 1;code = 49
char = -;code = 45
char = 2;code = 50
char = 3;code = 51
char = ;code = 32
char = C;code = 67
char = >;code = 62
char = T;code = 84
char = ;code = 32
char = a;code = 97
char = n;code = 110
char = d;code = 100
char = ;code = 32
char = I;code = 73
char = V;code = 86
char = S;code = 83
char = 3;code = 51
char = -;code = 45
char = 4;code = 52
char = 8;code = 56
char = ;code = 32
char = T;code = 84
char = >;code = 62
char = C;code = 67
char = .;code = 46
char = ;code = 32
char = O;code = 79
char = u;code = 117
char = r;code = 114
char = ;code = 32
char = f;code = 102
char = i;code = 105
char = n;code = 110
char = d;code = 100
char = i;code = 105
char = n;code = 110
char = g;code = 103
char = s;code = 115
char = ;code = 32
char = p;code = 112
char = r;code = 114
char = o;code = 111
char = v;code = 118
char = i;code = 105
char = d;code = 100
char = e;code = 101
char = ;code = 32
char = s;code = 115
char = u;code = 117
char = p;code = 112
char = p;code = 112
char = o;code = 111
char = r;code = 114
char = t;code = 116
char = i;code = 105
char = n;code = 110
char = g;code = 103
char = ;code = 32
char = e;code = 101
char = v;code = 118
char = i;code = 105
char = d;code = 100
char = e;code = 101
char = n;code = 110
char = c;code = 99
char = e;code = 101
char = ;code = 32
char = f;code = 102
char = o;code = 111
char = r;code = 114
char = ;code = 32
char = t;code = 116
char = h;code = 104
char = e;code = 101
char = ;code = 32
char = c;code = 99
char = o;code = 111
char = n;code = 110
char = c;code = 99
char = e;code = 101
char = p;code = 112
char = t;code = 116
char = ;code = 32
char = t;code = 116
char = h;code = 104
char = a;code = 97
char = t;code = 116
char = ;code = 32
char = t;code = 116
char = h;code = 104
char = e;code = 101
char = ;code = 32
char = i;code = 105
char = n;code = 110
char = h;code = 104
char = e;code = 101
char = r;code = 114
char = i;code = 105
char = t;code = 116
char = a;code = 97
char = n;code = 110
char = c;code = 99
char = e;code = 101
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 = l;code = 108
char = o;code = 111
char = w;code = 119
char = ;code = 32
char = e;code = 101
char = x;code = 120
char = p;code = 112
char = r;code = 114
char = e;code = 101
char = s;code = 115
char = s;code = 115
char = i;code = 105
char = o;code = 111
char = n;code = 110
char = ;code = 32
char = a;code = 97
char = l;code = 108
char = l;code = 108
char = e;code = 101
char = l;code = 108
char = e;code = 101
char = ;code = 32
char = I;code = 73
char = V;code = 86
char = S;code = 83
char = 3;code = 51
char = -;code = 45
char = 4;code = 52
char = 8;code = 56
char = C;code = 67
char = ;code = 32
char = i;code = 105
char = n;code = 110
char = ;code = 32
char = t;code = 116
char = r;code = 114
char = a;code = 97
char = n;code = 110
char = s;code = 115
char = ;code = 32
char = w;code = 119
char = i;code = 105
char = t;code = 116
char = h;code = 104
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 = i;code = 105
char = n;code = 110
char = ;code = 32
char = t;code = 116
char = h;code = 104
char = e;code = 101
char = ;code = 32
char = F;code = 70
char = E;code = 69
char = C;code = 67
char = H;code = 72
char = ;code = 32
char = g;code = 103
char = e;code = 101
char = n;code = 110
char = e;code = 101
char = ;code = 32
char = i;code = 105
char = s;code = 115
char = ;code = 32
char = n;code = 110
char = e;code = 101
char = c;code = 99
char = e;code = 101
char = s;code = 115
char = s;code = 115
char = a;code = 97
char = r;code = 114
char = y;code = 121
char = ;code = 32
char = f;code = 102
char = o;code = 111
char = r;code = 114
char = ;code = 32
char = E;code = 69
char = P;code = 80
char = P;code = 80
char = ;code = 32
char = t;code = 116
char = o;code = 111
char = ;code = 32
char = b;code = 98
char = e;code = 101
char = c;code = 99
char = o;code = 111
char = m;code = 109
char = e;code = 101
char = ;code = 32
char = c;code = 99
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 = l;code = 108
char = y;code = 121
char = ;code = 32
char = m;code = 109
char = a;code = 97
char = n;code = 110
char = i;code = 105
char = f;code = 102
char = e;code = 101
char = s;code = 115
char = t;code = 116
char = .;code = 46
char = <;code = 60
char = b;code = 98
char = r;code = 114
char = /;code = 47
char = >;code = 62
result sql = Erythropoietic protoporphyria (EPP) is an inherited disorder of porphyrin metabolism in which decreased activity of ferrochelatase (FECH) leads to accumulation of protoporphyrin IX (PP IX) in red blood cells, plasma, liver, and bile, and increased PP IX excretion in feces. Clinically, EPP is characterized by photosensitivity that begins in early childhood and includes burning, swelling, itching, and painful erythema in sun-exposed areas. Chronic liver disease is an important complication in a minority of EPP patients, and in some cases liver transplantation has been performed. So far, about 110 different mutations and several polymorphisms have been characterized in the human FECH gene. The relationship between mutations, polymorphisms, and porphyria development in Argentinean patients was investigated. This is the first genetic study carried out in the Argentinean population. IN FIVE ARGENTINEAN EPP FAMILIES WE DETECTED THREE NOVEL MUTATIONS: a deletion (451delT) producing a stop codon located 18 codons downstream from the mutation and two splicing mutations: IVS1-2A>G leading to exon 2 skipping and IVS4-2A>G, which causes the loss of the first 48 bp of exon 5.

WE ALSO FOUND TWO PREVIOUSLY DESCRIBED MUTATIONS: C343T and 400delA, which produce stop codons. All patients had an FECH activity 25% of normal and also had the polymorphisms -251A>G in the promoter region and IVS1-23 C>T and IVS3-48 T>C. Our findings provide supporting evidence for the concept that the inheritance of the low expression allele IVS3-48C in trans with a mutation in the FECH gene is necessary for EPP to become clinically manifest.

Publication: Mol. Med. 2009 Nov-Dec ;15(11-12)::425-31. :doi: 10.2119/molmed.2009.00006.
Publication Date: 2009 Nov-Dec
Study Author(s): Parera, Victoria E;Koole, Rita H;Minderman, Gardi;Edixhoven, Annie;Rossetti, Maria V;Batlle, Alcira;de Rooij, Felix W M;
Institution: Laboratory of Metabolic Diseases, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands.
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Erythropoietic protoporphyria (EPP) is an inherited disorder of porphyrin metabolism in which decreased activity of ferrochelatase (FECH) leads to accumulation of protoporphyrin IX (PP IX) in red blood cells, plasma, liver, and bile, and increased PP IX excretion in feces. Clinically, EPP is characterized by photosensitivity that begins in early childhood and includes burning, swelling, itching, and painful erythema in sun-exposed areas. Chronic liver disease is an important complication in a minority of EPP patients, and in some cases liver transplantation has been performed. So far, about 110 different mutations and several polymorphisms have been characterized in the human FECH gene. The relationship between mutations, polymorphisms, and porphyria development in Argentinean patients was investigated. This is the first genetic study carried out in the Argentinean population. IN FIVE ARGENTINEAN EPP FAMILIES WE DETECTED THREE NOVEL MUTATIONS: a deletion (451delT) producing a stop codon located 18 codons downstream from the mutation and two splicing mutations: IVS1-2A>G leading to exon 2 skipping and IVS4-2A>G, which causes the loss of the first 48 bp of exon 5.

WE ALSO FOUND TWO PREVIOUSLY DESCRIBED MUTATIONS: C343T and 400delA, which produce stop codons. All patients had an FECH activity 25% of normal and also had the polymorphisms -251A>G in the promoter region and IVS1-23 C>T and IVS3-48 T>C. Our findings provide supporting evidence for the concept that the inheritance of the low expression allele IVS3-48C in trans with a mutation in the FECH gene is necessary for EPP to become clinically manifest.
PMID: 19693296

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