Detection of large deletions in the LDL receptor gene with quantitative PCR methods期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Detection of large deletions in the LDL receptor gene with quantitative PCR methods

Authors:	Dorte?Damgaard author-information" > author-information__contact u-icon-before" > mailto:dorte.damgaard@dadlnet.dk" title=" dorte.damgaard@dadlnet.dk" itemprop=" email" data-track=" click" data-track-action=" Email author" data-track-label=" " >Email author,Peter?H?Nissen,Lillian?G?Jensen,Gitte?G?Nielsen,Anette?Stenderup,Mogens?L?Larsen,Ole?Faergeman

Affiliation:	(1) Department of Medicine and Cardiology, Aarhus Sygehus, Aarhus University Hospital, Tage Hansens Gade 2, 8000 Aarhus C, Denmark;(2) Department of Clinical Biochemistry, Aarhus Sygehus, Aarhus University Hospital, Aarhus, Denmark;(3) Department of Clinical Genetics, Aarhus Sygehus, Aarhus University Hospital, Aarhus, Denmark

Abstract:	Background Familial Hypercholesterolemia (FH) is a common genetic disease and at the molecular level most often due to mutations in the LDL receptor gene. In genetically heterogeneous populations, major structural rearrangements account for about 5% of patients with LDL receptor gene mutations.

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