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Article

Molecular genetic epidemiology of homozygous familial hypercholesterolemia in the Hokuriku district of Japan.

Atherosclerosis - 1 Feb 2011

Mabuchi Hiroshi, Nohara Atsushi, Noguchi Tohru, Kobayashi Junji, Kawashiri Masa-Aki, Tada Hayato, Nakanishi Chiaki, Mori Mika, Yamagishi Masakazu, Inazu Akihiro, Koizumi Junji

Abstract excerpt

AIM: Familial hypercholesterolemia (FH) is caused by mutations of FH genes, i.e. LDL-receptor (LDLR), PCSK9 and apolipoprotein B (ApoB) gene. We evaluated the usefulness of DNA analysis for the diagnosis of homozygous FH (homo-FH), and studied the frequency of FH in the Hokuriku district of Japan...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21146822
DOI: 10.1016/j.atherosclerosis.2010.11.005

Genes

LDLR
PCSK9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21146822-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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