Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases

• Fiona Blanco-Kelly ,

  Contributed equally to this work with: Fiona Blanco-Kelly, María García Hoyos

  Affiliations Genetic´s Department, Instituto de Investigación Sanitaria-Fundación Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain, Center of Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain

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• María García Hoyos ,

  Contributed equally to this work with: Fiona Blanco-Kelly, María García Hoyos

  Affiliation Instituto de Medicina Genómica (IMEGEN), Valencia, Spain

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• Miguel Angel Lopez Martinez,

  Affiliation Genetic´s Department, Instituto de Investigación Sanitaria-Fundación Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain

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• Maria Isabel Lopez-Molina,

  Affiliation Department of Ophthalmology, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital (IIS-FJD, UAM), Madrid, Spain

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• Rosa Riveiro-Alvarez,

  Affiliations Genetic´s Department, Instituto de Investigación Sanitaria-Fundación Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain, Center of Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain

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• Patricia Fernandez-San Jose,

  Affiliations Genetic´s Department, Instituto de Investigación Sanitaria-Fundación Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain, Center of Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain

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• Almudena Avila-Fernandez,

  Affiliations Genetic´s Department, Instituto de Investigación Sanitaria-Fundación Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain, Center of Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain

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• Marta Corton,

  Affiliations Genetic´s Department, Instituto de Investigación Sanitaria-Fundación Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain, Center of Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain

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• Jose M. Millan,

  Affiliations Center of Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain, Grupo de Investigación en Biomedicina Molecular, Celular y Genómica, Instituto de Investigación Sanitaria La Fe (IIS-La Fe), Valencia, Spain, Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario y Politécnico La Fe, Valencia, Spain

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• Blanca García Sandoval,

  Affiliation Department of Ophthalmology, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital (IIS-FJD, UAM), Madrid, Spain

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• Carmen Ayuso

  * E-mail: cayuso@fjd.es

  Affiliations Genetic´s Department, Instituto de Investigación Sanitaria-Fundación Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain, Center of Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain

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