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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...
Shranjeno v:
| izdano v: | Am J Ophthalmol |
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| Main Authors: | , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2018
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| Teme: | |
| Online dostop: | 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 |
| Oznake: |
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