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Article

Large-scale deletions of the ABCA1 gene in patients with hypoalphalipoproteinemia

4 Jun 2018

Abstract excerpt

Copy-number variations (CNVs) have been studied in the context of familial hypercholesterolemia but have not yet been evaluated in patients with extreme levels of HDL cholesterol. We evaluated targeted, next-generation sequencing data from patients with very low levels of HDL cholesterol (i.e., hypoalphalipoproteinemia) with the VarSeq-CNV® caller algorithm to screen for CNVs that disrupted the ABCA1 , LCAT , or...

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Share to Cholesterol and Lipid Metabolism
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PMID: 29866657
DOI: 10.1194/jlr.p086280

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