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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Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2012
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3464205/
https://ncbi.nlm.nih.gov/pubmed/23055945
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1003001
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