| Title : PNPLA3(148M) is a gain-of-function mutation that promotes hepatic steatosis by inhibiting ATGL-mediated triglyceride hydrolysis - Wang_2024_J.Hepatol__ |
| Author(s) : Wang Y , Hong S , Hudson H , Kory N , Kinch LN , Kozlitina J , Cohen JC , Hobbs HH |
| Ref : Journal of Hepatology , : , 2024 |
| Abstract : |
| PubMedSearch : Wang_2024_J.Hepatol__ |
| PubMedID: 39550037 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>\;A) in various racial and ethnic groups - Scott_2013_Hepatology_58_958 |
| Author(s) : Scott SA , Liu B , Nazarenko I , Martis S , Kozlitina J , Yang Y , Ramirez C , Kasai Y , Hyatt T , Peter I , Desnick RJ |
| Ref : Hepatology , 58 :958 , 2013 |
| Abstract : |
| PubMedSearch : Scott_2013_Hepatology_58_958 |
| PubMedID: 23424026 |