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 : IVS34-1G>C a splicing site mutation of intron 34 skipping of exon 35 found in compound heterozygous R296X\/IVS34-1G>C(R277X\/IVS34-1G>C) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis
| Title : Two distinct compound heterozygous constellations (R277X\/IVS34-1G>C and R277X\/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis - Gutnisky_2004_J.Clin.Endocrinol.Metab_89_646 |
| Author(s) : Gutnisky VJ , Moya CM , Rivolta CM , Domene S , Varela V , Toniolo JV , Medeiros-Neto G , Targovnik HM |
| Ref : J Clinical Endocrinology Metab , 89 :646 , 2004 |
| Abstract : Gutnisky_2004_J.Clin.Endocrinol.Metab_89_646 |
| ESTHER : Gutnisky_2004_J.Clin.Endocrinol.Metab_89_646 |
| PubMedSearch : Gutnisky_2004_J.Clin.Endocrinol.Metab_89_646 |
| PubMedID: 14764776 |
| Gene_locus related to this paper: human-TG |