A Heterozygous LMF1 Gene Mutation (c.1523C>T), Combined With an LPL Gene Mutation (c.590G>A), Aggravates the Clinical Symptoms in Hypertriglyceridemia

A Heterozygous LMF1 Gene Mutation (c.1523C>T), Combined With an LPL Gene Mutation (c.590G>A), Aggravates the Clinical Symptoms in Hypertriglyceridemia

Hypertriglyceridemia is an important contributor to atherosclerotic cardiovascular disease (ASCVD) and acute pancreatitis. Familial hypertriglyceridemia is often caused by mutations in genes involved in triglyceride metabolism. Here, we investigated the disease-causing gene mutations in a Chinese fa...

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Bibliographic Details
Main Authors: Danxia Guo, Yingchun Zheng, Zhongzhi Gan, Yingying Guo, Sijie Jiang, Fang Yang, Fu Xiong, Hua Zheng
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-03-01
Series:Frontiers in Genetics
Subjects:
hypertriglyceridemia
lipase maturation factor 1
lipoprotein lipase
missense mutation
heterozygous mutation
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.814295/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2022.814295/full

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