VCAN Canonical Splice Site Mutation is Associated With Vitreoretinal Degeneration and Disrupts an MMP Proteolytic Site

PURPOSE: To gain insight into the pathophysiology of vitreoretinal degeneration, the clinical course of three family members with Versican Vitreoretinopathy (VVR) is described, and a canonical splice site mutation in the gene encoding for versican (VCAN) protein was biochemically analyzed. METHODS:...

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Detalles Bibliográficos
Autores principales: Tang, Peter H., Velez, Gabriel, Tsang, Stephen H., Bassuk, Alexander G., Mahajan, Vinit B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2019
Materias:
Retina
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6735613/
https://www.ncbi.nlm.nih.gov/pubmed/30657523
http://dx.doi.org/10.1167/iovs.18-25624

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6735613/
https://www.ncbi.nlm.nih.gov/pubmed/30657523
http://dx.doi.org/10.1167/iovs.18-25624

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