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.L571fsX595 Leu571fsX595 c.1712delT (p.L552fsX576 L552fsTer576 without 19-aminoacid signal peptide) mutation located in exon 9, caused a frame-shift at codon 552 and ran into a stop codon after 24 L571fsX595
| Title : Six new mutations of the thyroglobulin gene discovered in taiwanese children presenting with thyroid dyshormonogenesis - Niu_2009_J.Clin.Endocrinol.Metab_94_5045 |
| Author(s) : Niu DM , Hsu JH , Chong KW , Huang CH , Lu YH , Kao CH , Yu HC , Lo MY , Jap TS |
| Ref : J Clinical Endocrinology Metab , 94 :5045 , 2009 |
| Abstract : Niu_2009_J.Clin.Endocrinol.Metab_94_5045 |
| ESTHER : Niu_2009_J.Clin.Endocrinol.Metab_94_5045 |
| PubMedSearch : Niu_2009_J.Clin.Endocrinol.Metab_94_5045 |
| PubMedID: 19837936 |
| Gene_locus related to this paper: human-TG |