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Article

Molecular spectrum of autosomal dominant hypercholesterolemia in France.

Human mutation - 1 Nov 2010

Marduel Marie, Carrié Alain, Sassolas Agnes, Devillers Martine, Carreau Valérie, Di Filippo Mathilde, Erlich Danièle, Abifadel Marianne, Marques-Pinheiro Alice, Munnich Arnold, Junien Claudine, Boileau Catherine, Varret Mathilde, Rabès Jean-Pierre

Abstract excerpt

Autosomal Dominant Hypercholesterolemia (ADH), characterized by isolated elevation of plasmatic LDL cholesterol and premature cardiovascular complications, is associated with mutations in 3 major genes: LDLR (LDL receptor), APOB (apolipoprotein B) and PCSK9(proprotein convertase subtilisin-kexin type 9). Through the French ADH Research Network, we collected molecular data from 1358 French probands from eleven...

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

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Source

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Identifiers

PMID: 20809525
DOI: 10.1002/humu.21348
PMCID: PMC3152176

Genes

LDLR
PCSK9
APOB

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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