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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Am J Ophthalmol
Egile Nagusiak: Kiser, Kelly, Webb-Jones, Kaylie D., Bowne, Sara J., Sullivan, Lori S., Daiger, Stephen P., Birch, David G.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2018
Gaiak:
Sarrera elektronikoa: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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