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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057096/
https://www.ncbi.nlm.nih.gov/pubmed/31962008
http://dx.doi.org/10.1002/mgg3.1048

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057096/
https://www.ncbi.nlm.nih.gov/pubmed/31962008
http://dx.doi.org/10.1002/mgg3.1048

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