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

Milenkovic, Vladimir M., Röhrl, Elena, Weber, Bernhard H. F. and Strauss, Olaf (2011) Disease-associated missense mutations in bestrophin-1 affect cellular trafficking and anion conductance. Journal of Cell Science 124, pp. 2988-2996.

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Abstract

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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Item type:Article
Date:2011
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1242/jcs.085878DOI
21878505PubMed ID
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Partially
Item ID:35187
Owner only: item control page

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