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Heterozygous deletions of noncoding parts of the PRPF31 gene cause retinitis pigmentosa via reduced gene expression.
Ruberto, Francesco Paolo; Balzano, Sara; Namburi, Prasanthi; Kimchi, Adva; Pescini-Gobert, Rosanna; Obolensky, Alexey; Banin, Eyal; Ben-Yosef, Tamar; Sharon, Dror; Rivolta, Carlo.
Afiliación
  • Ruberto FP; Experimental Cardiology Unit, Department of Cardiovascular Medicine, University of Lausanne Medical School, Lausanne, Switzerland.
  • Balzano S; Department of Computational Biology, University of Lausanne, Lausanne, Switzerland.
  • Namburi P; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.
  • Kimchi A; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.
  • Pescini-Gobert R; Department of Computational Biology, University of Lausanne, Lausanne, Switzerland.
  • Obolensky A; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.
  • Banin E; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.
  • Ben-Yosef T; Rappaport Faculty of Medicine, Technion- Israel Institute of Technology, Haifa, Israel.
  • Sharon D; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.
  • Rivolta C; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.
Mol Vis ; 27: 107-116, 2021.
Article en En | MEDLINE | ID: mdl-33907366
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Retinitis Pigmentosa / Regulación de la Expresión Génica / Regiones Promotoras Genéticas / Eliminación de Secuencia / Regiones no Traducidas 5' / ARN no Traducido / Proteínas del Ojo Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Mol Vis Asunto de la revista: BIOLOGIA MOLECULAR / OFTALMOLOGIA Año: 2021 Tipo del documento: Article País de afiliación: Suiza
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Retinitis Pigmentosa / Regulación de la Expresión Génica / Regiones Promotoras Genéticas / Eliminación de Secuencia / Regiones no Traducidas 5' / ARN no Traducido / Proteínas del Ojo Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Mol Vis Asunto de la revista: BIOLOGIA MOLECULAR / OFTALMOLOGIA Año: 2021 Tipo del documento: Article País de afiliación: Suiza