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Identification of a novel mutation in the human PDE6A gene in autosomal recessive retinitis pigmentosa: homology with the nmf28/nmf28 mice model

Authors

  • M Corton,

    1. Genomics Medicine Group, Galician Foundation of Genomic Medicine and University of Santiago de Compostela, CIBERER Santiago de Compostela, Galicia, Spain
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  • MJ Blanco,

    1. Servicio de Oftamoloxía, Hospital-University Complex of Santiago (CHUS), Spain
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  • M Torres,

    1. Genomics Medicine Group, Galician Foundation of Genomic Medicine and University of Santiago de Compostela, CIBERER Santiago de Compostela, Galicia, Spain
    2. National Genotyping Center (CEGEN), University of Santiago de Compostela, Santiago de Compostela, Spain
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  • M Sanchez-Salorio,

    1. Instituto Gallego de Oftalmología (INGO), Santiago de Compostela, Spain
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  • A Carracedo,

    1. Genomics Medicine Group, Galician Foundation of Genomic Medicine and University of Santiago de Compostela, CIBERER Santiago de Compostela, Galicia, Spain
    2. National Genotyping Center (CEGEN), University of Santiago de Compostela, Santiago de Compostela, Spain
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  • M Brion

    Corresponding author
    1. Genomics Medicine Group, Galician Foundation of Genomic Medicine and University of Santiago de Compostela, CIBERER Santiago de Compostela, Galicia, Spain
    2. Genetics of Cardiovascular and Ophthalmologic Diseases, Hospital-University Complex of Santiago (CHUS), Santiago de Compostela, Galicia, Spain
    • Maria Brión
      Genetics of Cardiovascular and Ophthalmologic Diseases
      Hospital-University Complex of Santiago (CHUS)
      Edif. Consultas Planta-2
      Trav. da Choupana s/n. E-15706 Santiago de Compostela
      Galicia
      Spain
      Tel.: +34 981951490;
      fax: +34 981951473;
      e-mail: maria.brion@usc.es

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