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Article

Efflux and atherosclerosis: the clinical and biochemical impact of variations in the ABCA1 gene.

Arteriosclerosis, thrombosis, and vascular biology - 1 Aug 2003

Singaraja Roshni R, Brunham Liam R, Visscher Henk, Kastelein John J P, Hayden Michael R

Abstract excerpt

Approximately 50 mutations and many single nucleotide polymorphisms have been described in the ABCA1 gene, with mutations leading to Tangier disease and familial hypoalphalipoproteinemia. Homozygotes and heterozygotes for mutations in ABCA1 display a wide range of phenotypes. Identification of ABCA1 as the molecular defect in these diseases has allowed for ascertainment based on genetic status and determination...

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Source

Identifiers

PMID: 12763760
DOI: 10.1161/01.ATV.0000078520.89539.77

Genes

ABCA1

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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