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

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., hypo...

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Hlavní autoři: Jacqueline S. Dron, Jian Wang, Amanda J. Berberich, Michael A. Iacocca, Henian Cao, Ping Yang, Joan Knoll, Karine Tremblay, Diane Brisson, Christian Netzer, Ioanna Gouni-Berthold, Daniel Gaudet, Robert A. Hegele
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2018-08-01
Edice:Journal of Lipid Research
Témata:
ATP-binding cassette subfamily A member 1
bioinformatic analysis
copy-number variation
high density lipoprotein cholesterol
next-generation sequencing
diagnostic tools
On-line přístup:http://www.sciencedirect.com/science/article/pii/S0022227520330625
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