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Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy.
Nikopoulos, Konstantinos; Avila-Fernandez, Almudena; Corton, Marta; Lopez-Molina, Maria Isabel; Perez-Carro, Raquel; Bontadelli, Lara; Di Gioia, Silvio Alessandro; Zurita, Olga; Garcia-Sandoval, Blanca; Rivolta, Carlo; Ayuso, Carmen.
Affiliation
  • Nikopoulos K; Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.
  • Avila-Fernandez A; Department of Genetics, Instituto de Investigacion Sanitaria-University Hospital Fundacion Jimenez Diaz (IIS - FJD, UAM), Madrid, Spain.
  • Corton M; Centro de Investigacion Biomedica en Red (CIBER) de Enfermedades Raras ISCIII, Madrid, Spain.
  • Lopez-Molina MI; Department of Genetics, Instituto de Investigacion Sanitaria-University Hospital Fundacion Jimenez Diaz (IIS - FJD, UAM), Madrid, Spain.
  • Perez-Carro R; Centro de Investigacion Biomedica en Red (CIBER) de Enfermedades Raras ISCIII, Madrid, Spain.
  • Bontadelli L; Centro de Investigacion Biomedica en Red (CIBER) de Enfermedades Raras ISCIII, Madrid, Spain.
  • Di Gioia SA; Department of Ophthalmology, University Hospital Fundacion Jimenez Diaz, Madrid, Spain.
  • Zurita O; Department of Genetics, Instituto de Investigacion Sanitaria-University Hospital Fundacion Jimenez Diaz (IIS - FJD, UAM), Madrid, Spain.
  • Garcia-Sandoval B; Centro de Investigacion Biomedica en Red (CIBER) de Enfermedades Raras ISCIII, Madrid, Spain.
  • Rivolta C; Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.
  • Ayuso C; Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.
Sci Rep ; 5: 13902, 2015 Sep 09.
Article in En | MEDLINE | ID: mdl-26350383
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Full text: 1 Database: MEDLINE Main subject: Cadherins / Consanguinity / Retinal Dystrophies / Genes, Recessive / Mutation / Nerve Tissue Proteins Type of study: Diagnostic_studies / Observational_studies / Prognostic_studies Limits: Female / Humans / Male Country/Region as subject: Europa Language: En Year: 2015 Type: Article
Fulltext
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PubMed Links
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Full text: 1 Database: MEDLINE Main subject: Cadherins / Consanguinity / Retinal Dystrophies / Genes, Recessive / Mutation / Nerve Tissue Proteins Type of study: Diagnostic_studies / Observational_studies / Prognostic_studies Limits: Female / Humans / Male Country/Region as subject: Europa Language: En Year: 2015 Type: Article