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 : c.5590-5727del 138 bp deletion deletion of 46 amino-acids Leu 1851(1831) Arg1896(1875) in exon 19 splice site variant?
| Title : A 138-nucleotide deletion in the thyroglobulin ribonucleic acid messenger in a congenital goiter with defective thyroglobulin synthesis - Targovnik_1995_J.Clin.Endocrinol.Metab_80_3356 |
| Author(s) : Targovnik HM , Vono J , Billerbeck AE , Cerrone GE , Varela V , Mendive F , Wajchenberg BL , Medeiros-Neto G |
| Ref : J Clinical Endocrinology Metab , 80 :3356 , 1995 |
| Abstract : Targovnik_1995_J.Clin.Endocrinol.Metab_80_3356 |
| ESTHER : Targovnik_1995_J.Clin.Endocrinol.Metab_80_3356 |
| PubMedSearch : Targovnik_1995_J.Clin.Endocrinol.Metab_80_3356 |
| PubMedID: 7593451 |
| Gene_locus related to this paper: human-TG |