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Article

The study of familial hypercholesterolemia in Italy: A narrative review.

Atherosclerosis. Supplements - 1 Oct 2017

Bertolini Stefano, Pisciotta Livia, Fasano Tommaso, Rabacchi Claudio, Calandra Sebastiano

Abstract excerpt

In this review we outline our experience in the clinical and molecular diagnosis of familial hypercholesterolemia (FH), built up over more than three decades. We started our work by selecting FH patients on the basis of stringent clinical criteria, including extensive family studies. In most patients we confirmed the clinical diagnosis by showing a reduced LDLR activity in skin fibroblasts. After the isolation of...

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Identifiers

PMID: 28965614
DOI: 10.1016/j.atherosclerosissup.2017.07.003

Genes

LDLR
APOB
PCSK9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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