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Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies families.
Sánchez-Alcudia, Rocío; Cortón, Marta; Ávila-Fernández, Almudena; Zurita, Olga; Tatu, Sorina D; Pérez-Carro, Raquel; Fernandez-San Jose, Patricia; Lopez-Martinez, Miguel Ángel; del Castillo, Francisco J; Millan, Jose M; Blanco-Kelly, Fiona; García-Sandoval, Blanca; Lopez-Molina, Maria Isabel; Riveiro-Alvarez, Rosa; Ayuso, Carmen.
Affiliation
  • Sánchez-Alcudia R; Department of Genetics, Fundacion Jimenez Diaz University Hospital (IIS - FJD, UAM), Madrid, Spain Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain.
  • Cortón M; Department of Genetics, Fundacion Jimenez Diaz University Hospital (IIS - FJD, UAM), Madrid, Spain Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain.
  • Ávila-Fernández A; Department of Genetics, Fundacion Jimenez Diaz University Hospital (IIS - FJD, UAM), Madrid, Spain Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain.
  • Zurita O; Department of Genetics, Fundacion Jimenez Diaz University Hospital (IIS - FJD, UAM), Madrid, Spain Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain.
  • Tatu SD; Department of Genetics, Fundacion Jimenez Diaz University Hospital (IIS - FJD, UAM), Madrid, Spain Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain.
  • Pérez-Carro R; Department of Genetics, Fundacion Jimenez Diaz University Hospital (IIS - FJD, UAM), Madrid, Spain Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain.
  • Fernandez-San Jose P; Department of Genetics, Fundacion Jimenez Diaz University Hospital (IIS - FJD, UAM), Madrid, Spain Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain.
  • Lopez-Martinez MÁ; Department of Genetics, Fundacion Jimenez Diaz University Hospital (IIS - FJD, UAM), Madrid, Spain Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain.
  • del Castillo FJ; Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain Unidad de Genética Molecular, Hospital Universitario Ramón y Cajal, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), Madrid, Spain.
  • Millan JM; Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain Grupo de Investigación en Enfermedades Neurosensoriales, Instituto de Investigación Sanitaria IIS-La Fe, Valencia, Spain.
  • Blanco-Kelly F; Department of Genetics, Fundacion Jimenez Diaz University Hospital (IIS - FJD, UAM), Madrid, Spain Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain.
  • García-Sandoval B; Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain Department of Ophthalmology, Fundacion Jimenez Diaz University Hospital (IIS - FJD, UAM), Madrid, Spain.
  • Lopez-Molina MI; Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain Department of Ophthalmology, Fundacion Jimenez Diaz University Hospital (IIS - FJD, UAM), Madrid, Spain.
  • Riveiro-Alvarez R; Department of Genetics, Fundacion Jimenez Diaz University Hospital (IIS - FJD, UAM), Madrid, Spain Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain.
  • Ayuso C; Department of Genetics, Fundacion Jimenez Diaz University Hospital (IIS - FJD, UAM), Madrid, Spain Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain.
Invest Ophthalmol Vis Sci ; 55(11): 7562-71, 2014 Oct 23.
Article in En | MEDLINE | ID: mdl-25342620
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Heterogeneity / Eye Proteins / Retinal Dystrophies / Mutation Type of study: Prevalence_studies / Risk_factors_studies Limits: Aged / Female / Humans / Male Country/Region as subject: Europa Language: En Journal: Invest Ophthalmol Vis Sci Year: 2014 Document type: Article Affiliation country: Spain Country of publication: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Heterogeneity / Eye Proteins / Retinal Dystrophies / Mutation Type of study: Prevalence_studies / Risk_factors_studies Limits: Aged / Female / Humans / Male Country/Region as subject: Europa Language: En Journal: Invest Ophthalmol Vis Sci Year: 2014 Document type: Article Affiliation country: Spain Country of publication: United States