Gene Locus : human-ABHD5
Mode of mutation : Natural mutant
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.Thr65Ala c.193A>G homozygous missense mutation found in two sisters. Non-alcoholic fatty liver disease (NAFLD) pediatric female patient without the full CDS phenotype
| Title : Two cases of non-alcoholic fatty liver disease caused by biallelic ABHD5 mutations - |
| Author(s) : Adant I , Declercq M , Bird M , Bauters M , Boeckx N , Devriendt K , Cassiman D , Witters P |
| Ref : Journal of Hepatology , 72 :1030 , 2020 |
| PubMedID: 32107051 |
| Gene_locus related to this paper: human-ABHD5 |