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Time Course of Disease Progression of PRPF31-mediated Retinitis Pigmentosa
PURPOSE: Variants in PRPF31, a splicing factor, are a common cause of autosomal dominant retinitis pigmentosa (RP). Deleterious variants are thought to cause disease by haploinsufficiency. In anticipation of upcoming replacement gene therapy trials, we present the phenotype and clinical progression...
Enregistré dans:
| Publié dans: | Am J Ophthalmol |
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| Auteurs principaux: | , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
2018
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6481169/ https://ncbi.nlm.nih.gov/pubmed/30582903 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajo.2018.12.009 |
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