Article
Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands.
Clinical genetics - 1 Feb 2000
Lombardi M P, Redeker E J, Defesche J C, Kamerling S W, Trip M D, Mannens M M, Havekes L M, Kastelein J J
Abstract excerpt
Mutations in the LDL receptor are responsible for familial hypercholesterolemia (FH). At present, more than 600 mutations of the LDL receptor 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 represents a prerequisite for the implementation of nation-wide genetic...
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