Molecular Consequences of BEST1 Gene Mutations in Canine Multifocal Retinopathy Predict Functional Implications for Human Bestrophinopathies

PURPOSE. Bestrophin-1 gene (BEST1) mutations are responsible for a broad spectrum of human retinal phenotypes, jointly called bestrophinopathies. Canine multifocal retinopathy (cmr), caused by mutations in the dog gene ortholog, shares numerous phenotypic features with human BEST1-associated disorde...

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Huvudupphovsmän: Guziewicz, Karina E., Slavik, Julianna, Lindauer, Sarah J. P., Aguirre, Gustavo D., Zangerl, Barbara
Materialtyp: Artigo
Språk:Inglês
Publicerad: Association for Research in Vision and Ophthalmology, Inc. 2011
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Articles
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3175949/
https://ncbi.nlm.nih.gov/pubmed/21498618
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.10-6385
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