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Article

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

PLoS genetics - 1 Jan 2012

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

Abstract excerpt

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 CAPN5 gene in three ADNIV kindreds. CAPN5 encodes calpain-5, a calcium-activated cysteine protease that is expressed in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23055945
DOI: 10.1371/journal.pgen.1003001
PMCID: PMC3464205

Genes

CAPN5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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