Gene Locus : human-ABHD5
Mode of mutation :
Disease : NAFLD || Chanarin-Dorfman syndrome
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.Gly14Ter c.40G>T in exon 1. Heterozygous nonsense mutation in 9 affected patients with Non-alcoholic fatty liver disease (NAFLD) in a large non-consanguineous family of Italian ancestry
| Title : Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations - Youssefian_2019_J.Hepatol_71_366 |
| Author(s) : Youssefian L , Vahidnezhad H , Saeidian AH , Pajouhanfar S , Sotoudeh S , Mansouri P , Amirkashani D , Zeinali S , Levine MA , Peris K , Colombo R , Uitto J |
| Ref : Journal of Hepatology , 71 :366 , 2019 |
| Abstract : |
| PubMedSearch : Youssefian_2019_J.Hepatol_71_366 |
| PubMedID: 30954460 |
| Gene_locus related to this paper: human-ABHD5 |