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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...
שמור ב:
| הוצא לאור ב: | Ocul Immunol Inflamm |
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| Main Authors: | , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
2017
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| נושאים: | |
| גישה מקוונת: | 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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