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 : p.Y383TfsX19 Tyr383ThrfsTer19 p.G381fsX382 G381fsX382 c.1143delC (p.G362fsX382 G362fsX382 without 19-aminoacid signal peptide) exon 9 Compound heterozygous with mutation R2242H(R2223H) resulting in fetal goitrous hypothyroidism
| Title : Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G-->A [R2223H]) resulting in fetal goitrous hypothyroidism - Caron_2003_J.Clin.Endocrinol.Metab_88_3546 |
| Author(s) : Caron P , Moya CM , Malet D , Gutnisky VJ , Chabardes B , Rivolta CM , Targovnik HM |
| Ref : J Clinical Endocrinology Metab , 88 :3546 , 2003 |
| Abstract : Caron_2003_J.Clin.Endocrinol.Metab_88_3546 |
| ESTHER : Caron_2003_J.Clin.Endocrinol.Metab_88_3546 |
| PubMedSearch : Caron_2003_J.Clin.Endocrinol.Metab_88_3546 |
| PubMedID: 12915634 |
| Gene_locus related to this paper: human-TG |