William R. Harlan Jr., M.D.; John H. Graham, M.D.; E. Harvey Estes, M.D. (Associate)
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A large family having familial hypercholesterolemia with a complete pedigree dating from 1732 was studied to define the inheritance, clinical manifestations, and biochemical features.
This disease is inherited as an autosomal dominant with relatively complete expression. The majority of affected individuals, including those with xanthoma are heterozygotic. The serum cholesterol is elevated to approximately twice normal values, corrected for age and sex. However, two groups within this family were found to have less striking elevation of serum cholesterol and no xanthoma. These groups were related to others with definite familial hypercholesterolemia through a common ancestor. This modification of gene expression
William R. Harlan, John H. Graham, E. Harvey Estes. Familial Hypercholesterolemia: A Genetic and Metabolic Study.. Ann Intern Med. 1965;63:915–916. doi: 10.7326/0003-4819-63-5-915_3
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Published: Ann Intern Med. 1965;63(5):915-916.
Cardiology, Coronary Risk Factors, Dyslipidemia.
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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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