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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Autori principali: Zangerl, Barbara, Wickström, Kaisa, Slavik, Julianna, Lindauer, Sarah J., Ahonen, Saija, Schelling, Claude, Lohi, Hannes, Guziewicz, Karina E., Aguirre, Gustavo D.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Molecular Vision 2010
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3008713/
https://ncbi.nlm.nih.gov/pubmed/21197113
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