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Lesson on Familial Hypercholesterolemia: Genetic Basis, Pathophysiology, Symptoms and Treatment. Familial hypercholesterolemia is the most common autosomal dominant disorder. Familial hypercholesterolemia results from mutations in 1 of 3 genes: LDL receptor, ApoB100, or PCSK9. Mutations in these genes lead to increases in LDL cholesterol levels ...
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