Article
The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.
Danish medical bulletin - 1 Nov 2002
Jensen Henrik Kjoerulf
Abstract excerpt
Normal function of the hepatic low-density lipoprotein (LDL) receptor is obligate for normal levels of plasma LDL cholesterol. The LDL receptor regulates the concentration of plasma LDL cholesterol by internalizing apolipoprotein B-100- and apolipoprotein E-containing lipoproteins by receptor-mediated endocytosis. Mutations in the gene encoding the LDL receptor protein give rise to one of the most common...
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