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Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome

PURPOSE: To describe the molecular epidemiology of nonsyndromic retinitis pigmentosa (RP) and Usher syndrome (US) in Italian patients. METHODS: A total of 591 probands (315 with family history and 276 sporadics) were analyzed. For 155 of them, we performed a family segregation study, considering a t...

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Detalles Bibliográficos
Autores principales: Colombo, Leonardo, Maltese, Paolo E., Castori, Marco, El Shamieh, Said, Zeitz, Christina, Audo, Isabelle, Zulian, Alessandra, Marinelli, Carla, Benedetti, Sabrina, Costantini, Alisia, Bressan, Simone, Percio, Marcella, Ferri, Paolo, Abeshi, Andi, Bertelli, Matteo, Rossetti, Luca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7884295/
https://www.ncbi.nlm.nih.gov/pubmed/33576794
http://dx.doi.org/10.1167/iovs.62.2.13