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Article

Identification of a novel human cellular HDL biosynthesis defect.

European heart journal - 1 Sept 2009

Rashid Shirya, Marcil Michel, Ruel Isabelle, Genest Jacques

Abstract excerpt

AIMS: Severe high-density lipoprotein cholesterol (HDL-C) deficiency is attributed to mutations in several genes and may contribute to the genetic basis of coronary artery disease. To identify the cellular basis of a novel HDL-deficiency phenotype, we screened 54 subjects of French Canadian ancestry with severe HDL deficiency. METHODS AND RESULTS: We excluded individuals with mutations in genes currently...

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Source

Identifiers

PMID: 19553242
DOI: 10.1093/eurheartj/ehp250

Genes

ABCA1
LCAT
SMPD1

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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