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Article

An ABCA1 truncation shows no dominant negative effect in a familial hypoalphalipoproteinemia pedigree with three ABCA1 mutations.

Biochemical and biophysical research communications - 10 Jun 2011

Sorrenson Brie, Suetani Rachel J, Bickley Vivienne M, George Peter M, Williams Michael J A, Scott Russell S, McCormick Sally P A

Abstract excerpt

The ATP binding cassette transporter (ABCA1) A1 is a key determinant of circulating high density lipoprotein cholesterol (HDL-C) levels. Mutations in ABCA1 are a major genetic contributor to low HDL-C levels within the general population. Following the finding of three different ABCA1 mutations, p.C978fsX988, p.T1512M and p.N1800H in a subject with hypoalphalipoproteinemia, we aimed to establish whether the...

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Identifiers

PMID: 21575609
DOI: 10.1016/j.bbrc.2011.05.006

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ABCA1

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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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