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Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3)

PURPOSE: Mutations in bestrophin 1 (BEST1) are associated with a group of retinal disorders known as bestrophinopathies in man and canine multifocal retinopathies (cmr) in the dog. To date, the dog is the only large animal model suitable for the complex characterization and in-depth studies of Best-...

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Detalles Bibliográficos
Autores principales: Zangerl, Barbara, Wickström, Kaisa, Slavik, Julianna, Lindauer, Sarah J., Ahonen, Saija, Schelling, Claude, Lohi, Hannes, Guziewicz, Karina E., Aguirre, Gustavo D.
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3008713/
https://www.ncbi.nlm.nih.gov/pubmed/21197113