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Insertion and topology of normal and mutant bestrophin-1 in the endoplasmic reticulum membrane

Milenkovic, Vladimir M. ; Rivera, A. ; Horling, F. ; Weber, Bernhard H. F.


The vitelliform macular dystrophy type 2 (VMD2) gene mutated in Best macular dystrophy encodes a 585-amino acid putative transmembrane protein termed bestrophin-1. The vast majority of known disease-associated alterations are of the missense type, which cluster near predicted transmembrane domains (TMDs). To investigate bestrophin-1 membrane topology and to assess consequences of point mutations ...


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