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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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Autors principals: | , , , , , |
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Format: | Artigo |
Idioma: | Inglês |
Publicat: |
Molecular Vision
2011
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Matèries: | |
Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3130719/ https://ncbi.nlm.nih.gov/pubmed/21738396 |
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