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Article

Identification of the gene defect responsible for severe hypercholesterolaemia using whole-exome sequencing.

Scientific reports - 16 Jun 2015

Sun Li-Yuan, Zhang Yong-Biao, Jiang Long, Wan Ning, Wu Wen-Feng, Pan Xiao-Dong, Yu Jun, Zhang Feng, Wang Lu-Ya

Abstract excerpt

Familial hypercholesterolaemia (FH) is a serious genetic metabolic disease. We identified a specific family in which the proband had typical homozygous phenotype of FH, but couldn't detect any mutations in usual pathogenic genes using traditional sequencing. This study is the first attempt to use whole exome sequencing (WES) to identify the pathogenic genes in Chinese FH. The routine examinations were performed...

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Identifiers

PMID: 26077743
DOI: 10.1038/srep11380
PMCID: PMC4468422

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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