Identification and functional characterization of a novel heterozygous missense variant in the LPL associated with recurrent hypertriglyceridemia-induced acute pancreatitis in pregnancy.
Variants of Lipolysis-Related Genes in Korean Patients with Very High Triglycerides.
Yonsei Medical Journal
Lee, Chan Joo CJ; Oum, Chi Yoon CY; Lee, Yunbeom Y; Park, Sungha S; Kang, Seok Min SM; Choi, Donghoon D; Jang, Yangsoo Y; Lee, Ji Hyun JH; Lee, Sang Hak SH
Ryland, Georgina L GL; Doyle, Maria A MA; Goode, David D; Boyle, Samantha E SE; Choong, David Y H DY; Rowley, Simone M SM; Li, Jason J; , ; Bowtell, David D L DD; Tothill, Richard W RW; Campbell, Ian G IG; Gorringe, Kylie L KL
Publication Date: 2015-08-01
Variant appearance in text: LPL: 872G>A; Cys291Tyr