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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Bibliografiska uppgifter
I publikationen:JAMA Ophthalmol
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: American Medical Association 2020
Ämnen:
Original Investigation
Länkar: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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