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Familial hypercholesterolemia in China. Identification of mutations in the LDL-receptor gene that result in a receptor-negative phenotype.

Arteriosclerosis and thrombosis : a journal of vascular biology - 1 Jan 1994

Sun X M, Patel D D, Webb J C, Knight B L, Fan L M, Cai H J, Soutar A K

Abstract excerpt

Familial hypercholesterolemia (FH), caused by many different mutations in the low-density lipoprotein (LDL)-receptor gene, invariably leads to severe premature coronary heart disease (CHD) in homozygous individuals. Heterozygous FH patients are less severely affected but are still at increased risk of CHD in most populations. Although FH homozygotes in China are affected similarly to those elsewhere,...

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PMID: 7903864
DOI: 10.1161/01.atv.14.1.85

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

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