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.W637X Trp637Ter c.1901G>A (p.W618X Trp618Ter without 19-aminoacid signal peptide) homozygote exon9
| Title : Novel truncating thyroglobulin gene mutations associated with congenital hypothyroidism - Cangul_2014_Endocrine_45_206 |
| Author(s) : Cangul H , Boelaert K , Dogan M , Saglam Y , Kendall M , Barrett TG , Maher ER |
| Ref : Endocrine , 45 :206 , 2014 |
| Abstract : Cangul_2014_Endocrine_45_206 |
| ESTHER : Cangul_2014_Endocrine_45_206 |
| PubMedSearch : Cangul_2014_Endocrine_45_206 |
| PubMedID: 23949896 |
| Gene_locus related to this paper: human-TG |