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Article

Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study.

Atherosclerosis. Supplements - 1 Oct 2017

Pirillo Angela, Garlaschelli Katia, Arca Marcello, Averna Maurizio, Bertolini Stefano, Calandra Sebastiano, Tarugi Patrizia, Catapano Alberico L

Abstract excerpt

BACKGROUND: Familial hypercholesterolemia (FH) is an autosomal dominant disease characterized by elevated plasma levels of LDL-cholesterol that confers an increased risk of premature atherosclerotic cardiovascular disease. Early identification and treatment of FH patients can improve prognosis and reduce the burden of cardiovascular mortality. Aim of this study was to perform the mutational analysis of FH...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28965616
DOI: 10.1016/j.atherosclerosissup.2017.07.002

Genes

LDLR
APOB
LDLRAP1
PCSK9
APOE
STAP1

Provenance

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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