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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:JAMA Ophthalmol
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Medical Association 2020
Soggetti:
Original Investigation
Accesso online: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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi