Cholesterol and Lipoprotein Metabolism in Familial Hypercholesterolemia
Familial Hypercholesterolemia is an example in which a single gene mutation leads to atherosclerosis. The disorder is inherited as an autosomal dominant trait. The heterozygote frequency in the general U.S. population is 1 in 500. However, because this disorder is associated with atherosclerosis, it is found in approximately one of every 20 survivors of a myocardial infarction. This high frequency makes Familial Hypercholesterolemia the most common simply inherited disorder in man.
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