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Article

Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: importance of genetic testing in the entire family.

Atherosclerosis - 1 Oct 2011

Garcia-Garcia Ana-Barbara, Ivorra Carmen, Martinez-Hervas Sergio, Blesa Sebastian, Fuentes M José, Puig Oscar, Martín-de-Llano Jose Javier, Carmena Rafael, Real Jose T, Chaves Felipe Javier

Abstract excerpt

BACKGROUND: Autosomal dominant hypercholesterolemias (ADHs) are characterised by increased plasma levels of total and LDL cholesterol, predisposing to premature atherosclerosis. ADHs comprise several diseases with undistinguishable phenotype, caused by mutations in different genes: LDLR, APOB and PCSK9. Genetic studies are usually performed in patients with altered cholesterol levels. However, some persons...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21868016
DOI: 10.1016/j.atherosclerosis.2011.07.106

Genes

APOB
LDLR
PCSK9

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