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.Q1796X Gln1796Ter c.5386C>T (p.Q1777X Gln1777Ter without 19-amino-acid signal peptide) found in compound heterozygote R1530X\/Q1796X(R1511X\/Q1777X)
| Title : Congenital goitre with hypothyroidism caused by a novel compound heterozygous mutations in the thyroglobulin gene - Targovnik_2010_Clin.Endocrinol.(Oxf)_72_716 |
| Author(s) : Targovnik HM , Souchon PF , Machiavelli GA , Salmon-Musial AS , Mauran PL , Sulmont V , Doco-Fenzy M , Rivolta CM |
| Ref : Clinical Endocrinology (Oxf) , 72 :716 , 2010 |
| Abstract : Targovnik_2010_Clin.Endocrinol.(Oxf)_72_716 |
| ESTHER : Targovnik_2010_Clin.Endocrinol.(Oxf)_72_716 |
| PubMedSearch : Targovnik_2010_Clin.Endocrinol.(Oxf)_72_716 |
| PubMedID: 20447071 |
| Gene_locus related to this paper: human-TG |