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Article

Apolipoprotein E gene mutations in subjects with mixed hyperlipidemia and a clinical diagnosis of familial combined hyperlipidemia.

Atherosclerosis - 1 Jun 2012

Solanas-Barca María, de Castro-Orós Isabel, Mateo-Gallego Rocío, Cofán Montserrat, Plana Nuria, Puzo José, Burillo Elena, Martín-Fuentes Paula, Ros Emilio, Masana Luis, Pocoví Miguel, Civeira Fernando, Cenarro Ana

Abstract excerpt

OBJECTIVE: Rare mutations in the APOE gene, undetectable with the usual genotyping technique, are responsible for dominant familial dysbetalipoproteinemia (FD) and therefore could be easily misclassified as familial combined hyperlipidemia (FCHL). We aimed to identify APOE mutations associated with dominant combined hyperlipoproteinemia and to establish their frequency in subjects with a clinical diagnosis of...

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Source

Identifiers

PMID: 22481068
DOI: 10.1016/j.atherosclerosis.2012.03.011

Genes

APOE
LDLR

Variants

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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