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Article

Identification and functional characterization of LDLR mutations in familial hypercholesterolemia patients from Southern Italy.

Atherosclerosis - 1 Jun 2010

Romano Maria, Di Taranto Maria Donata, D'Agostino Maria Nicoletta, Marotta Gennaro, Gentile Marco, Abate Giovanna, Mirabelli Peppino, Di Noto Rosa, Del Vecchio Luigi, Rubba Paolo, Fortunato Giuliana

Abstract excerpt

OBJECTIVE: Autosomal dominant hypercholesterolemias are due to defects in the LDL receptor (LDLR) gene, in the apolipoprotein B-100 gene or in the proprotein convertase subtilisin/kexin type 9 gene. The aim of this study was to identify and functionally characterize mutations in the LDLR gene that account for most cases of familial hypercholesterolemia (FH). METHODS: We enrolled 56 unrelated patients from...

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Share to Apolipoprotein B-100
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20045108
DOI: 10.1016/j.atherosclerosis.2009.11.051

Genes

LDLR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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