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  • Title: Familial hypercholesterolemia: mechanism of inheritance.
    Author: de Oya M, Nuno J, Azpeitia AG, Villasante JG.
    Journal: Diabete Metab; 1980 Sep; 6(3):181-8. PubMed ID: 7439491.
    Abstract:
    We have studied a large family of 95 members with a defect in the metabolism of cholesterol, which is transmitted through three generations. The following characteristics of the family support the classification of the disorder as familial hypercholesterolemia : hypercholesterolemia, increased levels of phospholipids an beta-lipoproteins, normal values of triglycerides, pre-beta-lipoproteins and blood sugar, xanthomas, xanthelasmas, corneal arcus and early appearance of ischemic heart disease. Segregation analyses of the hypercholesterolemia and the findings of a bimodal distribution of total plasma cholesterol in the family suggest a monogenic autosomal dominant mechanism of transmission of this lipid disorder.
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