首页> Journal of lipid research> Large-scale deletions of the <i>ABCA1</i> gene in patients with hypoalphalipoproteinemia.

Large-scale deletions of the <i>ABCA1</i> gene in patients with hypoalphalipoproteinemia.

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第一作者： Jacqueline S,Dron

第一单位： Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London ON, Canada.;Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University, London ON, Canada.

作者： Jacqueline S,Dron ^[1] ; Jian,Wang ^[2] ; Amanda J,Berberich ^[3] ; Michael A,Iacocca ^[1] ; Henian,Cao ^[2] ; Ping,Yang ^[4] ; Joan,Knoll ^[4] ; Karine,Tremblay ^[5] ; Diane,Brisson ^[5] ; Christian,Netzer ^[6] ; Ioanna,Gouni-Berthold ^[7] ; Daniel,Gaudet ^[5] ; Robert A,Hegele ^[8]

作者单位： Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London ON, Canada.;Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University, London ON, Canada. ^[1] Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London ON, Canada. ^[2] Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London ON, Canada.;Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University, London ON, Canada.;Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London ON, Canada. ^[3] Department of Pathology and Laboratory Medicine, Schulich School of Medicine and Dentistry, Western University, London ON, Canada. ^[4] Lipidology Unit, Community Genomic Medicine Centre and ECOGENE-21, Department of Medicine, Université de Montréal, Saguenay QC, Canada. ^[5] Institute for Human Genetics, University of Cologne, Germany. ^[6] Polyclinic for Endocrinology, Diabetes and Preventive Medicine, University of Cologne, Germany. ^[7] Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London ON, Canada hegele@robarts.ca.;Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University, London ON, Canada.;Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London ON, Canada. ^[8]

关键词 ATP-binding cassette subfamily A member 1 bioinformatic analysis copy-number variation diagnostic tools dyslipidemia genetic testing high density lipoprotein cholesterol next-generation sequencing