Use of targeted exome sequencing in genetic diagnosis of Chinese familial hypercholesterolemia.

Use of targeted exome sequencing in genetic diagnosis of Chinese familial hypercholesterolemia.

Familial hypercholesterolemia is an autosomal dominant inherited disease characterized by elevated plasma low-density lipoprotein cholesterol (LDL-C). It is mainly caused by mutations of the low-density lipoprotein receptor (LDLR) gene. Currently, the methods of whole genome sequencing or whole exom...

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Bibliographic Details
Main Authors: Wen-Feng Wu, Li-Yuan Sun, Xiao-Dong Pan, Shi-Wei Yang, Lv-Ya Wang
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3983231?pdf=render

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http://europepmc.org/articles/PMC3983231?pdf=render

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