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Article

A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features.

Molecular vision - 1 Jan 2011

Brézin Antoine P, Nedelec Brigitte, Barjol Amandine, Rothschild Pierre-Raphael, Delpech Marc, Valleix Sophie

Abstract excerpt

PURPOSE: To detail the highly variable ocular phenotypes of a French family affected with an autosomal dominantly inherited vitreoretinopathy and to identify the disease gene. METHODS: Sixteen family members with ten affected individuals underwent detailed ophthalmic evaluation. Genetic linkage analysis and gene screening were undertaken for genes known to be involved in degenerative and exudative...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 21738396
PMCID: PMC3130719

Genes

VCAN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features.PMID 21738396Read ↗

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