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Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families.
Iarossi, Giancarlo; Marino, Valerio; Maltese, Paolo Enrico; Colombo, Leonardo; D'Esposito, Fabiana; Manara, Elena; Dhuli, Kristjana; Modarelli, Antonio Mattia; Cennamo, Gilda; Magli, Adriano; Dell'Orco, Daniele; Bertelli, Matteo.
Afiliación
  • Iarossi G; Department of Ophthalmology, Bambino Gesù Children's Hospital, 00165 Rome, Italy.
  • Marino V; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Biological Chemistry, University of Verona, 37134 Verona, Italy.
  • Maltese PE; MAGI'S Lab s.r.l., 38068 Rovereto (TN), Italy.
  • Colombo L; Department of Ophthalmology, San Paolo Hospital, University of Milan, 20142 Milano, Italy.
  • D'Esposito F; Imperial College Ophthalmic Research Unit, Western Eye Hospital, Imperial College Healthcare NHS Trust, London NW1 5QH, UK.
  • Manara E; MAGI Euregio, 39100 Bolzano, Italy.
  • Dhuli K; Eye Clinic, Department of Neurosciences, Reproductive Sciences and Dentistry, University of Naples "Federico II", 80138 Naples, Italy.
  • Modarelli AM; MAGI Euregio, 39100 Bolzano, Italy.
  • Cennamo G; MAGI Euregio, 39100 Bolzano, Italy.
  • Magli A; Department of Ophthalmology, San Paolo Hospital, University of Milan, 20142 Milano, Italy.
  • Dell'Orco D; Eye Clinic, Department of Public Health, University of Naples "Federico II", 80138 Naples, Italy.
  • Bertelli M; Department of Pediatric Ophthalmology, University of Salerno, 84084 Fisciano (SA), Italy.
Int J Mol Sci ; 22(1)2020 Dec 31.
Article en En | MEDLINE | ID: mdl-33396523
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas de Unión al GTP rab / Distrofias de Conos y Bastones / Guanosina Trifosfato / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Int J Mol Sci Año: 2020 Tipo del documento: Article País de afiliación: Italia
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas de Unión al GTP rab / Distrofias de Conos y Bastones / Guanosina Trifosfato / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Int J Mol Sci Año: 2020 Tipo del documento: Article País de afiliación: Italia