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Article

Structural modeling of a novel CAPN5 mutation that causes uveitis and neovascular retinal detachment.

PloS one - 1 Jan 2015

Bassuk Alexander G, Yeh Steven, Wu Shu, Martin Daniel F, Tsang Stephen H, Gakhar Lokesh, Mahajan Vinit B

Abstract excerpt

CAPN5 mutations have been linked to autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV), a blinding autoimmune eye disease. Here, we link a new CAPN5 mutation to ADNIV and model the three-dimensional structure of the resulting mutant protein. In our study, a kindred with inflammatory vitreoretinopathy was evaluated by clinical eye examinations, DNA sequencing, and protein structural modeling to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 25856303
DOI: 10.1371/journal.pone.0122352
PMCID: PMC4391918

Genes

CAPN5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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