Search for dissertations about: "autosomal recessive hypercholesterolemia"
Found 1 swedish dissertation containing the words autosomal recessive hypercholesterolemia.
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1. Familial hypercholesterolemia in Sweden : genetic and metabolic studies
Abstract : Familial hypercholesterolemia (FH) is inherited as an autosomal codominant disease, usually caused by mutations in the LDL receptor (LDLR) gene. Heterozygous FH is a common disease with a prevalence of about 1/500 in most populations. Clinically, FH is characterized by elevated LDL cholesterol, tendon xanthomas and premature atherosclerosis. READ MORE
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