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Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa.
Perez-Carro, Raquel; Corton, Marta; Sánchez-Navarro, Iker; Zurita, Olga; Sanchez-Bolivar, Noelia; Sánchez-Alcudia, Rocío; Lelieveld, Stefan H; Aller, Elena; Lopez-Martinez, Miguel Angel; López-Molina, Ma Isabel; Fernandez-San Jose, Patricia; Blanco-Kelly, Fiona; Riveiro-Alvarez, Rosa; Gilissen, Christian; Millan, Jose M; Avila-Fernandez, Almudena; Ayuso, Carmen.
Afiliación
  • Perez-Carro R; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain.
  • Corton M; Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
  • Sánchez-Navarro I; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain.
  • Zurita O; Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
  • Sanchez-Bolivar N; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain.
  • Sánchez-Alcudia R; Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
  • Lelieveld SH; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain.
  • Aller E; Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
  • Lopez-Martinez MA; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain.
  • López-Molina MI; Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
  • Fernandez-San Jose P; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain.
  • Blanco-Kelly F; Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
  • Riveiro-Alvarez R; Department of Human Genetics, Radboud university medical center, 6525 GA Nijmegen, The Netherlands.
  • Gilissen C; Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
  • Millan JM; Grupo de Investigación en Enfermedades Neurosensoriales. Instituto de Investigación Sanitaria IIS-La Fe, Hospital Universitario La Fe, Valencia, Spain.
  • Avila-Fernandez A; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain.
  • Ayuso C; Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
Sci Rep ; 6: 19531, 2016 Jan 25.
Article en En | MEDLINE | ID: mdl-26806561
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Retinitis Pigmentosa / Proteínas de la Matriz Extracelular / Transportadoras de Casetes de Unión a ATP / Péptidos y Proteínas de Señalización Intracelular / Proteínas del Ojo / Proteínas de la Membrana Límite: Female / Humans / Male Idioma: En Revista: Sci Rep Año: 2016 Tipo del documento: Article País de afiliación: España
Texto completo
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XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Retinitis Pigmentosa / Proteínas de la Matriz Extracelular / Transportadoras de Casetes de Unión a ATP / Péptidos y Proteínas de Señalización Intracelular / Proteínas del Ojo / Proteínas de la Membrana Límite: Female / Humans / Male Idioma: En Revista: Sci Rep Año: 2016 Tipo del documento: Article País de afiliación: España