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  1. No Access

    Chapter and Conference Paper

    RPGRIP1 and Cone–Rod Dystrophy in Dogs

    Cone–rod dystrophies (crd) represent a group of progressive inherited blinding diseases characterized by primary dysfunction and loss of cone photoreceptors accompanying or preceding rod death. Recessive crd type...

    Tatyana Kuznetsova, Barbara Zangerl, Gustavo D. Aguirre in Retinal Degenerative Diseases (2012)

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    Chapter and Conference Paper

    Modeling the Structural Consequences of BEST1 Missense Mutations

    Mutations in the bestrophin-1 gene (BEST1) are an important cause of inherited retinal disorders. Hitherto, over 100 unique allelic variants have been linked to the human BEST1 (hBEST1), and associated with disea...

    Karina E. Guziewicz, Gustavo D. Aguirre, Barbara Zangerl in Retinal Degenerative Diseases (2012)