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pubmed-article:15528481pubmed:abstractTextLoss-of-function mutations of the ATP-binding cassette transporter A1 (ABCA1) gene cause Tangier disease, a rare genetic disorder with accumulation of lipid-laden macrophages and increased risk of atherosclerosis. Common variants of this gene may be a genetic factor for atherosclerosis in the general population. This study was performed to test the reported association between the -565C>T polymorphism and atherosclerosis severity and to investigate whether this variant per se had an effect on promoter activity of the ABCA1 gene.lld:pubmed
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pubmed-article:15528481pubmed:articleTitleGenotypic effect of the -565C>T polymorphism in the ABCA1 gene promoter on ABCA1 expression and severity of atherosclerosis.lld:pubmed
pubmed-article:15528481pubmed:affiliationHuman Genetics Division, School of Medicine, University of Southampton, Southampton, UK.lld:pubmed
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