Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration.

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...

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Bibliographic Details
Main Authors: Vinit B Mahajan, Jessica M Skeie, Alexander G Bassuk, John H Fingert, Terry A Braun, Heather T Daggett, James C Folk, Val C Sheffield, Edwin M Stone
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2012-01-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC3464205?pdf=render

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http://europepmc.org/articles/PMC3464205?pdf=render

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