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

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 the key e...

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Publicado en:Mol Genet Genomic Med
Main Authors: Shi, Xiao‐Lei, Yang, Qi, Pu, Na, Li, Xiao‐Yao, Chen, Wei‐Wei, Zhou, Jing, Li, Gang, Tong, Zhi‐Hui, Férec, Claude, Cooper, David N., Chen, Jian‐Min, Li, Wei‐Qin
Formato: Artigo
Idioma:Inglês
Publicado: John Wiley and Sons Inc. 2020
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Original Articles
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7057096/
https://ncbi.nlm.nih.gov/pubmed/31962008
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1048
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