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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 and Weber, Bernhard H. F. (2005) VMD2 und seine Rolle bei Morbus Best und anderen Retinopathien -- VMD2 and its role in Best's disease and other retinopathies. Der Ophthalmologe 102 (2), pp. 116-121.

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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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Item type:Article
Date:2005
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1007/s00347-004-1159-1DOI
15627199PURL
Keywords:VMD2-Mutationen; Morbus Best; Vitreoretinale Choroidopathie mit Störungen in der Augenentwicklung; ADVIRC; Konservierte Genfamilie
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:35499
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