Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.

doi:10.1194/jlr.P055699

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Article

Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.

Journal of lipid research - 1 Mar 2016

Wintjens René, Bozon Dominique, Belabbas Khaldia, MBou Félicien, Girardet Jean-Philippe, Tounian Patrick, Jolly Mathilde, Boccara Franck, Cohen Ariel, Karsenty Alexandra, Dubern Béatrice, Carel Jean-Claude, Azar-Kolakez Ahlam, Feillet François, Labarthe François, Gorsky Anne-Marie Colin, Horovitz Alice, Tamarindi Catherine, Kieffer Pierre, Lienhardt Anne, Lascols Olivier, Di Filippo Mathilde, Dufernez Fabienne

Abstract excerpt

Autosomal dominant hypercholesterolemia (ADH) is a human disorder characterized phenotypically by isolated high-cholesterol levels. Mutations in the low density lipoprotein receptor (LDLR), APOB, and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes are well known to be associated with the disease. To characterize the genetic background associated with ADH in France, the three ADH-associated genes were...

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Identifiers

PMID: 26802169
DOI: 10.1194/jlr.P055699
PMCID: PMC4766997

Genes

APOE
LDLR
PCSK9
APOB

Provenance

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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