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Disease-associated missense mutations in bestrophin-1 affect cellular trafficking and anion conductance

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Milenkovic, Vladimir M. ; Röhrl, Elena ; Weber, Bernhard H. F. ; Strauss, Olaf
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Date of publication of this fulltext: 09 Feb 2017 15:31


Bestrophin-1, an integral membrane protein encoded by the BEST1 gene, is localized predominantly to the basolateral membrane of the retinal pigment epithelium. Mutations in the BEST1 gene have been associated with Best vitelliforme macular dystrophy (BMD), a central retinopathy with autosomal dominant inheritance and variable penetrance. Over 120 disease-causing mutations are known, the majority ...


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