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Two novel CAPN5 variants associated with mild and severe Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy (ADNIV) phenotypes

PURPOSE: We report two new CAPN5 mutations associated with a phenotype of Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy. METHODS: We performed next generation sequencing in two patients with ADNIV phenotype; the variants identified were explored further. RESULTS: Patient 1 was hetero...

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Udgivet i:Ocul Immunol Inflamm
Main Authors: Randazzo, Nadia M., Shanks, Morag E., Clouston, Penny, MacLaren, Robert E.
Format: Artigo
Sprog:Inglês
Udgivet: 2017
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6711405/
https://ncbi.nlm.nih.gov/pubmed/29040051
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/09273948.2017.1370651
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