Identification and functional characterization of a novel heterozygous missense variant in the LPL associated with recurrent hypertriglyceridemia ‐induced acute pancreatitis in pregnancy

ConclusionThis report describes the first identification and functional characterization of a heterozygous variant in theLPL that predisposed to recurrent HTG ‐APIP. Our findings confirm a major genetic contribution to the etiology of individual predisposition to HTG‐APIP.

Source: Molecular Genetics & Genomic Medicine - January 20, 2020 Category: Genetics & Stem Cells Authors: Xiao ‐Lei Shi, Qi Yang, Na Pu, Xiao‐Yao Li, Wei‐Wei Chen, Jing Zhou, Gang Li, Zhi‐Hui Tong, Claude Férec, David N. Cooper, Jian‐Min Chen, Wei‐Qin Li Tags: ORIGINAL ARTICLE Source Type: research