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VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies

White, K, Marquardt, A and Weber, Bernhard H. F. (2000) VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies. Human Mutation 15 (4), pp. 301-308.

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Abstract

Mutations in the gene VMD2 are associated with autosomal dominant vitelliform macular dystrophy (Best disease). VMD2 is expressed in the retinal pigment epithelium and codes for a 585 amino acid putative transmembrane protein with undetermined functional properties. To date, 48 different mutations, predominantly missense, have been described in Best disease families. These mutations generally ...

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Item type:Article
Date:2000
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1002/(SICI)1098-1004(200004)15:4<301::AID-HUMU1>3.0.CO;2-NDOI
10737974PubMed 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:No
Item ID:35452
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