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

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 anal...

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Detalles Bibliográficos
Autores principales: Brézin, Antoine P., Nedelec, Brigitte, Barjol, Amandine, Rothschild, Pierre-Raphael, Delpech, Marc, Valleix, Sophie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3130719/
https://www.ncbi.nlm.nih.gov/pubmed/21738396

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3130719/
https://www.ncbi.nlm.nih.gov/pubmed/21738396

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