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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Publicat a:Invest Ophthalmol Vis Sci
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: The Association for Research in Vision and Ophthalmology 2021
Matèries:
Genetics
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7884295/
https://ncbi.nlm.nih.gov/pubmed/33576794
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.62.2.13
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