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Article

Cutoff point separating affected and unaffected familial hypercholesterolemic patients validated by LDL-receptor gene mutants.

Journal of atherosclerosis and thrombosis - 1 Jan 2005

Mabuchi Hiroshi, Higashikata Toshinori, Nohara Atushi, Lu Hong, Yu Wen Xin, Nozue Tsuyoshi, Noji Yoshihiro, Katsuda Shoji, Kawashiri Masa-Aki, Inazu Akihiro, Kobayashi Junji, Koizumi Junji

Abstract excerpt

Familial hypercholesterolemia (FH) results from low-density lipoprotein (LDL) receptor gene mutations. Heterozygotes have twice normal LDL-cholesterol concentrations in early childhood, and experience early myocardial infarction. We demonstrated bimodal cholesterol frequency distributions, independently confirming existence of an identifiable hypercholesterolemic subpopulation. We assayed blood lipids in 181 FH...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 15725694
DOI: 10.5551/jat.12.35

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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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