Article
Molecular consequences of BEST1 gene mutations in canine multifocal retinopathy predict functional implications for human bestrophinopathies.
Investigative ophthalmology & visual science - 23 Jun 2011
Guziewicz Karina E, Slavik Julianna, Lindauer Sarah J P, Aguirre Gustavo D, Zangerl Barbara
Abstract excerpt
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 disorders. The purpose of this study was the assessment of molecular consequences and pathogenic outcomes of the cmr1...
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