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Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD)

Krämer, F, Mohr, N, Kellner, U, Rudolph, G and Weber, Bernhard H. F. (2003) Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD). Human Mutation 22 (5), p. 418.

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Abstract

Mutations in the vitelliform macular dystrophy 2 (VMD2) gene encoding besrtophin are responsible for Best macular dystrophy (BMD), a juvenile-onset autosomal dominant disorder of the central retina. Here, we report ten novel VMD2 mutations identified in clinically diagnosed BMD patients. The heterozygous alterations include nine missense mutations (c.32A>T, c.76G>C, c.85T>C, c.122T>C, c.122T>C, ...

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Item type:Article
Date:2003
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1002/humu.9189DOI
14517959PubMed 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:35453
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