Calpain-5 Mutations Cause Autoimmune Uveitis, Retinal Neovascularization, and Photoreceptor Degeneration

Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) is an autoimmune condition of the eye that sequentially mimics uveitis, retinitis pigmentosa, and proliferative diabetic retinopathy as it progresses to complete blindness. We identified two different missense mutations in the CAP...

Descripción completa

Detalles Bibliográficos
Autores principales: Mahajan, Vinit B., Skeie, Jessica M., Bassuk, Alexander G., Fingert, John H., Braun, Terry A., Daggett, Heather T., Folk, James C., Sheffield, Val C., Stone, Edwin M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3464205/
https://www.ncbi.nlm.nih.gov/pubmed/23055945
http://dx.doi.org/10.1371/journal.pgen.1003001

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3464205/
https://www.ncbi.nlm.nih.gov/pubmed/23055945
http://dx.doi.org/10.1371/journal.pgen.1003001

Ejemplares similares