A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia

od Joshi, Mugdha, Eagan, Jacqueline, Desai, Nirav K, Newton, Stephanie A, Towne, Meghan C, Marinakis, Nicholas S, Esteves, Kristyn M, De Ferranti, Sarah, Bennett, Michael J, McIntyre, Adam, Beggs, Alan H, Berry, Gerard T, Agrawal, Pankaj B
Wydane 2014