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Article

The genetic spectrum of familial hypercholesterolemia in the central south region of China.

Atherosclerosis - 1 Mar 2017

Xiang Rong, Fan Liang-Liang, Lin Min-Jie, Li Jing-Jing, Shi Xiang-Yu, Jin Jie-Yuan, Liu Yu-Xing, Chen Ya-Qin, Xia Kun, Zhao Shui-Ping

Abstract excerpt

BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is the most common and severe autosomal dominant lipid metabolism dysfunction, which causes xanthoma, atherosclerosis and coronary heart disease. Earlier studies showed that mutations in LDLR, APOB and PCSK9 cause FH. Although more than 75% of the population in Europe has been scrutinized for FH-causing mutations, the genetic diagnosis proportion among...

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Source

Identifiers

PMID: 28235710
DOI: 10.1016/j.atherosclerosis.2017.02.007

Genes

LDLR
APOB
PCSK9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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