Analysis of a Chinese Pedigree With Familial Chylomicronemia Syndrome Reveals Two Novel LPL Mutations by Whole-Exome Sequencing

Analysis of a Chinese Pedigree With Familial Chylomicronemia Syndrome Reveals Two Novel LPL Mutations by Whole-Exome Sequencing

Familial chylomicronemia syndrome (FCS) is a rare monogenic autosomal recessive disease caused by loss-of-function mutations in genes involved in chylomicron breakdown through hydrolysis of triglycerides into free fatty acids. Patients are often diagnosed in early childhood with extremely high trigl...

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Bibliographic Details
Main Authors: Ying Liu, Zhangzhang Lan, Fang Zhao, Shuangchuan Zhang, Wenyong Zhang
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-07-01
Series:Frontiers in Genetics
Subjects:
Familial chylomicronemia syndrome
LPL
whole-exome sequencing
hypertriglyceridemia
missense mutation
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2020.00741/full

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https://www.frontiersin.org/article/10.3389/fgene.2020.00741/full

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