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Article

Single heterozygote splice mutation in the ABCA1 gene is associated with diffuse atherosclerotic disease in a low high-density lipoprotein syndrome.

European heart journal - 1 Sept 2012

Dimitroulis Dimitrios, Kelm Malte, Vorpahl Marc

Abstract excerpt

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22453657
DOI: 10.1093/eurheartj/ehs085

Genes

ABCA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Single heterozygote splice mutation in the ABCA1 gene is associated with diffuse atherosclerotic disease in a low high-density lipoprotein syndrome.PMID 22453657Read ↗

Variations on a gene: rare and common variants in ABCA1 and their impact on HDL cholesterol levels and atherosclerosis.Semantic proximity Read ↗

A novel nonsense mutation of ABCA8 in a patient with reduced HDL-c levels and atherosclerosis.Semantic proximity Read ↗

Multiple splice defects in ABCA1 cause low HDL-C in a family with hypoalphalipoproteinemia and premature coronary disease.Semantic proximity Read ↗

A homozygous variant in ABCA3 is associated with severe respiratory distress and early neonatal death.Semantic proximity Read ↗

Associations between two common polymorphisms in the ABCA1 gene and subclinical atherosclerosis: Multi-Ethnic Study of Atherosclerosis (MESA)Semantic proximity Read ↗

R1615P: a novel mutation in ABCA1 associated with low levels of HDL and type II diabetes mellitus.Semantic proximity Read ↗

Genetic variation in the ABCA1 gene, HDL cholesterol, and risk of ischemic heart disease in the general population.Semantic proximity Read ↗

Association of HDL deficiency with a novel mutation in the ABCA1 gene.Semantic proximity Read ↗

Novel rare alleles of ABCA1 are exclusively associated with extreme high-density lipoprotein-cholesterol levels among the Han Chinese.Semantic proximity Read ↗

Efflux and atherosclerosis: the clinical and biochemical impact of variations in the ABCA1 gene.Semantic proximity Read ↗

Splicing defects in ABCD1 gene leading to both exon skipping and partial intron retention in X-linked adrenoleukodystrophy Tunisian patient.Semantic proximity Read ↗

Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general populationSemantic proximity Read ↗

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