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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Bibliografski detalji
Glavni autori: 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.
Format: Artigo
Jezik:Inglês
Izdano: Public Library of Science 2012
Teme:
Research Article
Online pristup: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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