Article
Clinical, diagnostic, and therapeutic aspects of familial hypercholesterolemia.
Seminars in vascular medicine - 1 Feb 2004
van Aalst-Cohen Emily S, Jansen Angelique C M, de Jongh Saskia, de Sauvage Nolting Pernette R W, Kastelein John J P
Abstract excerpt
Heterozygous familial hypercholesterolemia (FH) is a common inherited disorder of lipoprotein metabolism. FH is characterized by elevated levels of low-density lipoprotein cholesterol, the presence of tendon xanthomas, and premature cardiovascular disease. The underlying molecular defect of FH consists of mutations in the gene coding for the low-density-lipoprotein-receptor protein, detection of which provides...
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