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Article

Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia.

Human mutation - 1 Nov 2005

Allard Delphine, Amsellem Sabine, Abifadel Marianne, Trillard Mélanie, Devillers Martine, Luc Gérald, Krempf Michel, Reznik Yves, Girardet Jean-Philippe, Fredenrich Alexandre, Junien Claudine, Varret Mathilde, Boileau Catherine, Benlian Pascale, Rabès Jean-Pierre

Abstract excerpt

Autosomal dominant hypercholesterolemia (ADH) is a frequent (1/500) monogenic inherited disorder characterized by isolated elevation of LDL leading to premature cardiovascular disease. ADH is known to result from mutations at two main loci: LDLR (encoding the low density lipoprotein receptor), and APOB (encoding apolipoprotein B100), its natural ligand. We previously demonstrated that ADH is also caused by...

Topics

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Apolipoproteins B
Hypercholesterolemia
Mutation, Missense
Physical Chromosome Mapping

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Proprotein Convertase 9

Proprotein Convertases

Serine Endopeptidases

Source

Identifiers

PMID: 16211558
DOI: 10.1002/humu.9383

Genes

PCSK9
LDLR
APOB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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