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.R787X Arg787Ter c.2359C>T (p.R768X Arg768Ter without 19-amino-acid signal peptide)
| Title : New insights into thyroglobulin gene: Molecular analysis of seven novel mutations associated with goiter and hypothyroidism - Citterio_2013_Mol.Cell.Endocrinol_365_277 |
| Author(s) : Citterio CE , Machiavelli GA , Miras MB , Gruneiro-Papendieck L , Lachlan K , Sobrero G , Chiesa A , Walker J , Munoz L , Testa G , Belforte FS , Gonzalez-Sarmiento R , Rivolta CM , Targovnik HM |
| Ref : Mol Cell Endocrinol , 365 :277 , 2013 |
| Abstract : Citterio_2013_Mol.Cell.Endocrinol_365_277 |
| ESTHER : Citterio_2013_Mol.Cell.Endocrinol_365_277 |
| PubMedSearch : Citterio_2013_Mol.Cell.Endocrinol_365_277 |
| PubMedID: 23164529 |
| Gene_locus related to this paper: human-TG |
| Title : Congenital hypothyroidism caused by a novel homozygous mutation in the thyroglobulin gene - Agretti_2013_Eur.J.Pediatr_172_959 |
| Author(s) : Agretti P , De Marco G , Di Cosmo C , Ferrarini E , Montanelli L , Bagattini B , Vitti P , Tonacchera M |
| Ref : Eur J Pediatr , 172 :959 , 2013 |
| Abstract : Agretti_2013_Eur.J.Pediatr_172_959 |
| ESTHER : Agretti_2013_Eur.J.Pediatr_172_959 |
| PubMedSearch : Agretti_2013_Eur.J.Pediatr_172_959 |
| PubMedID: 23455760 |
| Gene_locus related to this paper: human-TG |