Article
Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3).
Molecular vision - 16 Dec 2010
Zangerl Barbara, Wickström Kaisa, Slavik Julianna, Lindauer Sarah J, Ahonen Saija, Schelling Claude, Lohi Hannes, Guziewicz Karina E, Aguirre Gustavo D
Abstract excerpt
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-related disorders. In the first report of cmr, the disease was described in a group of mastiff-related breeds (cmr1)...
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