Article
The molecular basis of familial hypercholesterolemia in The Netherlands.
Human genetics - 1 Dec 2001
Fouchier S W, Defesche J C, Umans-Eckenhausen M W, Kastelein J P
Abstract excerpt
Mutations in the low-density lipoprotein (LDL) receptor gene are responsible for familial hypercholesterolemia (FH). At present, more than 600 mutations in this gene are known to underlie FH. However, the array of mutations varies considerably in different populations. Therefore, the delineation of essentially all LDL-receptor gene mutations in a population is a prerequisite for the implementation of nation-wide...
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