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Pvu II polymorphism of low density lipoprotein receptor gene and familial hypercholesterolemia. Study of Italians.

Arteriosclerosis (Dallas, Tex.) - 1 Jan 2000

Daga A, Fabbi M, Mattioni T, Bertolini S, Corte G

Abstract excerpt

Familial hypercholesterolemia is a metabolic disorder inherited as an autosomal dominant trait characterized by an increased plasma low density lipoprotein (LDL) level. It has been demonstrated that the disease is caused by several different mutations in the LDL receptor gene. Although early identification of individuals carrying the defective gene could be useful in reducing the risk of atherosclerosis and...

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PMID: 2904255
DOI: 10.1161/01.atv.8.6.845

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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