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Article

Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features.

Atherosclerosis - 1 Nov 2020

Bertolini Stefano, Calandra Sebastiano, Arca Marcello, Averna Maurizio, Catapano Alberico L, Tarugi Patrizia

Abstract excerpt

BACKGROUND AND AIMS: Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder characterized by extremely elevated plasma levels of low density lipoprotein cholesterol (LDL-C) and high risk of premature atherosclerotic cardiovascular disease (ASCVD). HoFH is caused by pathogenic variants in several genes, such as LDLR, APOB and PCSK9, responsible for autosomal dominant hypercholesterolemia (ADH),...

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PMID: 32977124
DOI: 10.1016/j.atherosclerosis.2020.08.027

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