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VMD2 und seine Rolle bei Morbus Best und anderen Retinopathien -- VMD2 and its role in Best's disease and other retinopathies

Stöhr, H. ; Milenkowic, V. ; Weber, Bernhard H. F.



Abstract

Best's vitelliform macular dystrophy (Best's disease) is an autosomal dominant disease of the central retina and is caused by mutations in the VMD2 gene located on the long arm of chromosome 11. VMD2 encodes bestrophin, a transmembrane protein with putative Ca(2+)-dependent chloride channel activity at the basolateral portion of the retinal pigment epithelium. The N-terminal half of bestrophin ...

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