Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation.

doi:10.1002/humu.22215

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Article

Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation.

Human mutation - 1 Jan 2013

Marduel Marie, Ouguerram Khadija, Serre Valérie, Bonnefont-Rousselot Dominique, Marques-Pinheiro Alice, Erik Berge Knut, Devillers Martine, Luc Gérald, Lecerf Jean-Michel, Tosolini Laurent, Erlich Danièle, Peloso Gina M, Stitziel Nathan, Nitchké Patrick, Jaïs Jean-Philippe, Abifadel Marianne, Kathiresan Sekar, Leren Trond Paul, Rabès Jean-Pierre, Boileau Catherine, Varret Mathilde

Abstract excerpt

Apolipoprotein (apo) E mutants are associated with type III hyperlipoproteinemia characterized by high cholesterol and triglycerides levels. Autosomal dominant hypercholesterolemia (ADH), due to the mutations in the LDLR, APOB, or PCSK9 genes, is characterized by an isolated elevation of cholesterol due to the high levels of low-density lipoproteins (LDLs). We now report an exceptionally large family including 14...

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Source

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Identifiers

PMID: 22949395
DOI: 10.1002/humu.22215
PMCID: PMC3638718

Genes

APOE
APOB
LDLR
PCSK9

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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