Phenotypic variance in Calpain-5 retinal degeneration

PURPOSE: To characterize the phenotype of patients with mild calpain-5 Neovascular Inflammatory Vitreoretinopathy (ADNIV). OBSERVATIONS: The CAPN5 p.R243L mutation is typically associated with onset in the twenties and severe, progressive uveitis, retinal neovascularization, and intraocular fibrosis...

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Detalles Bibliográficos
Autores principales: Tang, Peter H., Chemudupati, Teja, Wert, Katherine J., Folk, James C., Mahajan, MaryAnn, Tsang, Stephen H., Bassuk, Alexander G., Mahajan, Vinit B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7132063/
https://www.ncbi.nlm.nih.gov/pubmed/32274441
http://dx.doi.org/10.1016/j.ajoc.2020.100627

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7132063/
https://www.ncbi.nlm.nih.gov/pubmed/32274441
http://dx.doi.org/10.1016/j.ajoc.2020.100627

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