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Open Access
Peer-reviewed
Research Article
A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice
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Rocio Sanchez-Alcudia,
Affiliations Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain, Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain
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Maria Garcia-Hoyos,
Current address: Instituto de Medicina Genomica, Valencia, Spain
Affiliation Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain
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Miguel Angel Lopez-Martinez,
Affiliations Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain, Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain
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Noelia Sanchez-Bolivar,
Affiliations Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain, Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain
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Olga Zurita,
Affiliations Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain, Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain
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Ascension Gimenez,
Affiliations Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain, Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain
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Cristina Villaverde,
Affiliations Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain, Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain
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Luciana Rodrigues-Jacy da Silva,
Current address: Universidad de Mogi das Cruzes, São Paulo, Brazil
Affiliation Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain
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Marta Corton,
Affiliations Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain, Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain
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Raquel Perez-Carro,
Affiliations Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain, Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain
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Simona Torriano,
Affiliation Inserm U1051, Institute for Neurosciences of Montpellier, Montpellier, France
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Vasiliki Kalatzis,
Affiliation Inserm U1051, Institute for Neurosciences of Montpellier, Montpellier, France
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Carlo Rivolta,
Affiliation Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland
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Almudena Avila-Fernandez,
Affiliations Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain, Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain
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Isabel Lorda,
Affiliations Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain, Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain
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Maria J. Trujillo-Tiebas,
Affiliations Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain, Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain
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Blanca Garcia-Sandoval,
Affiliation Department of Ophthalmology, IIS-Fundación Jiménez Díaz University Hospital, Madrid, Spain
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Maria Isabel Lopez-Molina,
Affiliation Department of Ophthalmology, IIS-Fundación Jiménez Díaz University Hospital, Madrid, Spain
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Fiona Blanco-Kelly,
Affiliations Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain, Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain
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Rosa Riveiro-Alvarez,
Affiliations Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain, Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain
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Carmen Ayuso
* E-mail: cayuso@fjd.es
Affiliations Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain, Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain
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A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice
- Rocio Sanchez-Alcudia,
- Maria Garcia-Hoyos,
- Miguel Angel Lopez-Martinez,
- Noelia Sanchez-Bolivar,
- Olga Zurita,
- Ascension Gimenez,
- Cristina Villaverde,
- Luciana Rodrigues-Jacy da Silva,
- Marta Corton,
- Raquel Perez-Carro
- Published: April 12, 2016
- https://doi.org/10.1371/journal.pone.0151943