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Article

Promoter haplotype of a new ABCA1 mutant influences expression of familial hypoalphalipoproteinemia.

Atherosclerosis - 1 Aug 2006

Slatter Tania L, Williams Michael J A, Frikke-Schmidt Ruth, Tybjaerg-Hansen Anne, Morison Ian M, McCormick Sally P A

Abstract excerpt

Mutations in the ATP-binding cassette A1 (ABCA1) transporter cause the high-density lipoprotein (HDL) deficiency syndromes of Tangier disease and familial hypoalphalipoproteinemia (FHA). Between individuals carrying ABCA1 mutations, the expression of FHA can be highly variable. Using denaturing HPLC (dHPLC) and direct promoter sequencing we screened the ABCA1 gene of a family with Tangier disease and variable...

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Share to ATP Binding Cassette Transporter 1
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16225879
DOI: 10.1016/j.atherosclerosis.2005.09.019

Genes

ABCA1

Variants

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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