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Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy.
Aoun, Manar; Passerini, Ilaria; Chiurazzi, Pietro; Karali, Marianthi; De Rienzo, Irene; Sartor, Giovanna; Murro, Vittoria; Filimonova, Natalia; Seri, Marco; Banfi, Sandro.
  • Aoun M; Novartis Farma, Largo Boccioni 1, 21040 Origgio, Italy.
  • Passerini I; Department of Genetic Diagnosis, Careggi Teaching Hospital, 50134 Florence, Italy.
  • Chiurazzi P; Istituto di Medicina Genomica, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.
  • Karali M; Fondazione Policlinico Universitario "A. Gemelli" IRCCS, UOC Genetica Medica, 00168 Roma, Italy.
  • De Rienzo I; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Università degli Studi della Campania "Luigi Vanvitelli", 80131 Naples, Italy.
  • Sartor G; Telethon Institute of Genetics and Medicine (TIGEM), 80078 Pozzuoli, Italy.
  • Murro V; Department of Ophthalmology, AOU-Careggi, 50234 Florence, Italy.
  • Filimonova N; Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.
  • Seri M; Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Eye Clinic Careggi Teaching Hospital, 50234 Florence, Italy.
  • Banfi S; Novartis Pharma AG, Fabrikstrasse 6, CH-4002 Basel, Switzerland.
Int J Mol Sci ; 22(13)2021 Jul 05.
Article en En | MEDLINE | ID: mdl-34281261
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades de la Retina / Enfermedades Hereditarias del Ojo / Cis-trans-Isomerasas Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Año: 2021 Tipo del documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades de la Retina / Enfermedades Hereditarias del Ojo / Cis-trans-Isomerasas Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Año: 2021 Tipo del documento: Article