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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...

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Detalles Bibliográficos
Publicado en:Am J Ophthalmol
Autores principales: Kiser, Kelly, Webb-Jones, Kaylie D., Bowne, Sara J., Sullivan, Lori S., Daiger, Stephen P., Birch, David G.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2018
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Acceso en línea: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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