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Article

Homology modeling and functional testing of an ABCA1 mutation causing Tangier disease.

Atherosclerosis - 1 Oct 2011

Suetani Rachel J, Sorrenson Brie, Tyndall Joel D A, Williams Michael J A, McCormick Sally P A

Abstract excerpt

OBJECTIVE: To investigate the impact of the p.R1068H mutation on the structure and function of the ATP-binding cassette A1 (ABCA1) protein. METHODS: A homology model of the nucleotide binding domains of ABCA1 was constructed to identify the three-dimensional orientation of R1068. Cholesterol efflux assays were performed on fibroblasts obtained from members of a Tangier disease (TD) family carrying the p.R1068H...

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Source

Identifiers

PMID: 21763656
DOI: 10.1016/j.atherosclerosis.2011.06.019

Genes

ABCA1

Variants

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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