Gene Locus : human-TG
Mode of mutation : Natural mutant
Disease : Goiter, familial with hypothyroidism, autosomal recessive
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
IVS3-3C>G skipping of exon4
| Title : Identification of a splicing mutation responsible for a human hereditary goiter with hypothyroidism. (Abstract) - |
| Author(s) : Cochaux P , Ieiri T , Targovnik H , Suzuki M , Shimoda SI , Perret J , Vassart G |
| Ref : American Journal of Human Genetics , 49 (suppl.) :131 , 1991 |
| PubMedID: |
| Title : A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism - Ieiri_1991_J.Clin.Invest_88_1901 |
| Author(s) : Ieiri T , Cochaux P , Targovnik HM , Suzuki M , Shimoda S , Perret J , Vassart G |
| Ref : J Clinical Investigation , 88 :1901 , 1991 |
| Abstract : |
| PubMedSearch : Ieiri_1991_J.Clin.Invest_88_1901 |
| PubMedID: 1752952 |