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 : g.IVS8-1G>C a splicing site mutation of intron 8 skipping of exon 9 Mutation IVS8-1G>C_human-TG
| Title : Monogenic Hashimoto thyroiditis associated with a variant in the thyroglobulin (TG) gene - Lo_2018_J.Autoimmun_86_116 |
| Author(s) : Lo MS , Towne M , VanNoy GE , Brownstein CA , Lane AA , Chatila TA , Agrawal PB |
| Ref : J Autoimmun , 86 :116 , 2018 |
| Abstract : Lo_2018_J.Autoimmun_86_116 |
| ESTHER : Lo_2018_J.Autoimmun_86_116 |
| PubMedSearch : Lo_2018_J.Autoimmun_86_116 |
| PubMedID: 28942902 |
| Gene_locus related to this paper: human-TG |