Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial

IMPORTANCE: Treatment trials require sound knowledge on the natural course of disease. OBJECTIVE: To assess clinical features, genetic findings, and genotype-phenotype correlations in patients with retinitis pigmentosa (RP) associated with biallelic sequence variations in the PDE6A gene in preparati...

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Detalhes bibliográficos
Publicado no:JAMA Ophthalmol
Main Authors: Kuehlewein, Laura, Zobor, Ditta, Andreasson, Sten Olof, Ayuso, Carmen, Banfi, Sandro, Bocquet, Beatrice, Bernd, Antje S., Biskup, Saskia, Boon, Camiel J. F., Downes, Susan M., Fischer, M. Dominik, Holz, Frank G., Kellner, Ulrich, Leroy, Bart P., Meunier, Isabelle, Nasser, Fadi, Rosenberg, Thomas, Rudolph, Günther, Stingl, Katarina, Thiadens, Alberta A. H. J., Wilhelm, Barbara, Wissinger, Bernd, Zrenner, Eberhart, Kohl, Susanne, Weisschuh, Nicole
Formato: Artigo
Idioma:Inglês
Publicado em: American Medical Association 2020
Assuntos:
Original Investigation
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7563671/
https://ncbi.nlm.nih.gov/pubmed/33057649
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaophthalmol.2020.4206
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