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Article

A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1.

European journal of human genetics : EJHG - 1 Nov 2010

Marques-Pinheiro Alice, Marduel Marie, Rabès Jean-Pierre, Devillers Martine, Villéger Ludovic, Allard Delphine, Weissenbach Jean, Guerin Maryse, Zair Yassine, Erlich Danièle, Junien Claudine, Munnich Arnold, Krempf Michel, Abifadel Marianne, Jaïs Jean-Philippe, Boileau Catherine, Varret Mathilde

Abstract excerpt

Autosomal dominant hypercholesterolemia (ADH) is characterized by isolated increase in plasmatic low-density lipoprotein (LDL) cholesterol levels associated with high risk of premature cardiovascular disease. Mutations in LDLR, APOB, and PCSK9 genes have been shown to cause ADH. We now report further genetic heterogeneity of ADH through the study of a large French family in which the involvement of these three...

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Identifiers

PMID: 20571503
DOI: 10.1038/ejhg.2010.94
PMCID: PMC2987478

Genes

APOB
LDLR
PCSK9
LCAT

Provenance

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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