Article
Familial hypercholesterolemia in the Finnish north Karelia. A molecular, clinical, and genealogical study.
Arteriosclerosis, thrombosis, and vascular biology - 1 Nov 1997
Vuorio A F, Turtola H, Piilahti K M, Repo P, Kanninen T, Kontula K
Abstract excerpt
A specific mutation termed FH-North Karelia [FH-NK] accounts for almost 90% of familial hypercholesterolemia [FH] cases in the Finnish North Karelia, with a population of about 180,000. Extensive search for its presence in the entire North Karelia province revealed 340 carriers of this mutation. Other mutations of the LDL receptor [LDLR] gene accounted for 67 cases of heterozygous FH. This gives a minimum FH...
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