Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects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

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Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects

Authors:	Peter H Nissen Dorte Damgaard Anette Stenderup Gitte G Nielsen Mogens L Larsen and Ole F?rgeman

Institution:	(1) Department of Clinical Biochemistry, Aarhus Sygehus, Aarhus University Hospital, Aarhus, Denmark;(2) Department of Medicine and Cardiology, Aarhus Sygehus, Aarhus University Hospital, Aarhus, Denmark

Abstract:	Background Familial Hypercholesterolemia is a common autosomal dominantly inherited disease that is most frequently caused by mutations in the gene encoding the receptor for low density lipoproteins (LDLR). Deletions and other major structural rearrangements of the LDLR gene account for approximately 5% of the mutations in many populations.

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