A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews

PURPOSE: To identify the genetic basis for retinitis pigmentosa (RP) in a cohort of Jewish patients from Caucasia. METHODS: Patients underwent a detailed ophthalmic evaluation, including funduscopic examination, visual field testing, optical coherence tomography (OCT), and electrophysiological tests...

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Detalles Bibliográficos
Autores principales: Tatour, Yasmin, Tamaiev, Jonathan, Shamaly, Shamaly, Colombo, Roberto, Bril, Ephrat, Rabinowitz, Tom, Yaakobi, Alona, Mezer, Eedy, Leibu, Rina, Tiosano, Beatrice, Shomron, Noam, Chowers, Itay, Banin, Eyal, Sharon, Dror, Ben-Yosef, Tamar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6386512/
https://www.ncbi.nlm.nih.gov/pubmed/30820151

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