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Article

Novel mutations of low-density lipoprotein receptor gene in China patients with familial hypercholesterolemia.

Applied biochemistry and biotechnology - 1 May 2015

Fan Liang-liang, Lin Min-jie, Chen Ya-qin, Huang Hao, Peng Dao-quan, Xia Kun, Zhao Shui-ping, Xiang Rong

Abstract excerpt

Familial hypercholesterolaemia (FH) is an autosomal dominant genetic disorder, associated with elevated level of serum low-density lipoprotein-cholesterol (LDL-C), which can lead to premature cardiovascular disease (CVD). Mutations in low density lipoprotein receptor (LDLR) and proprotein convertase subtilisin/kexin type 9 (PCSK9) have been identified to be the underlying cause of this disease. Genetic research...

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Source

Identifiers

PMID: 25846081
DOI: 10.1007/s12010-015-1554-x

Genes

LDLR
PCSK9

Variants

Provenance

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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