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

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

Abstract Background Acute pancreatitis in pregnancy (APIP) is a life‐threatening disease for both mother and fetus. To date, only three patients with recurrent hypertriglyceridemia‐induced APIP (HTG‐APIP) have been reported to carry rare variants in the lipoprotein lipase (LPL) gene, which encodes t...

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Bibliographic Details
Main 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
Format: Article
Language:English
Published: Wiley 2020-03-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
HTG‐APIP
lipoprotein lipase (LPL) gene
missense variant
recurrent acute pancreatitis in pregnancy
Online Access:https://doi.org/10.1002/mgg3.1048

Internet

https://doi.org/10.1002/mgg3.1048

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