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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. and Weber, Bernhard H. F. (2007) Insertion and topology of normal and mutant bestrophin-1 in the endoplasmic reticulum membrane. The Journal of Biological Chemistry 282, pp. 1313-1321.

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Abstract

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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Item type:Article
Date:2007
Institutions:Medicine > Lehrstuhl für Humangenetik
Biology, Preclinical Medicine > Institut für Physiologie > Prof. Dr. Karl Kunzelmann
Identification Number:
ValueType
10.1074/jbc.M607383200DOI
17110374PubMed 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:Yes
Item ID:35228
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