Gene Locus : human-TG
Mode of mutation : Natural mutant
Disease : Goiter, familial with hypothyroidism, autosomal recessive
Summary : Siffo_2018_Mol.Cell.Endocrinol_473_1
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 :
E1854X Glu1854Stop c.5560G>T (p.E1835X Glu1835Stop, without 19-aminoacid signal peptide) two siblings had a single p.E1835X mutated allele
| Title : Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism - Siffo_2018_Mol.Cell.Endocrinol_473_1 |
| Author(s) : Siffo S , Adrover E , Citterio CE , Miras MB , Balbi VA , Chiesa A , Weill J , Sobrero G , Gonzalez VG , Papendieck P , Martinez EB , Gonzalez-Sarmiento R , Rivolta CM , Targovnik HM |
| Ref : Mol Cell Endocrinol , 473 :1 , 2018 |
| Abstract : Siffo_2018_Mol.Cell.Endocrinol_473_1 |
| ESTHER : Siffo_2018_Mol.Cell.Endocrinol_473_1 |
| PubMedSearch : Siffo_2018_Mol.Cell.Endocrinol_473_1 |
| PubMedID: 29275168 |
| Gene_locus related to this paper: human-TG |