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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.
Affiliation
  • 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 in En | MEDLINE | ID: mdl-26806561
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Retinitis Pigmentosa / Extracellular Matrix Proteins / ATP-Binding Cassette Transporters / Intracellular Signaling Peptides and Proteins / Eye Proteins / Membrane Proteins Limits: Female / Humans / Male Language: En Journal: Sci Rep Year: 2016 Document type: Article Affiliation country: Spain Country of publication: United kingdom
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Retinitis Pigmentosa / Extracellular Matrix Proteins / ATP-Binding Cassette Transporters / Intracellular Signaling Peptides and Proteins / Eye Proteins / Membrane Proteins Limits: Female / Humans / Male Language: En Journal: Sci Rep Year: 2016 Document type: Article Affiliation country: Spain Country of publication: United kingdom