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Article

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

PloS one - 1 Jan 2014

Wu Wen-Feng, Sun Li-Yuan, Pan Xiao-Dong, Yang Shi-Wei, Wang Lv-Ya

Abstract excerpt

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 exome sequencing for screening mutations in familial hypercholesterolemia are not applicable in China due to high cost....

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Identifiers

PMID: 24722143
DOI: 10.1371/journal.pone.0094697
PMCID: PMC3983231

Genes

LDLR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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