Article
Clinical characterization and mutation spectrum of German patients with familial hypercholesterolemia.
Atherosclerosis - 1 Oct 2016
Grenkowitz Thomas, Kassner Ursula, Wühle-Demuth Marion, Salewsky Bastian, Rosada Adrian, Zemojtel Tomasz, Hopfenmüller Werner, Isermann Berend, Borucki Katrin, Heigl Franz, Laufs Ulrich, Wagner Stephan, Kleber Marcus E, Binner Priska, März Winfried, Steinhagen-Thiessen Elisabeth, Demuth Ilja
Abstract excerpt
BACKGROUND AND AIMS: Autosomal-dominant familial hypercholesterolemia (FH) is characterized by elevated plasma levels of low-density lipoprotein cholesterol (LDL-C) and a dramatically increased risk to develop cardiovascular disease (CVD). Mutations in three major genes have been associated with FH: the LDL receptor gene (LDLR), the apolipoprotein B gene (APOB), and the proprotein convertase subtilisin/kexin 9...
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