Article
Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD).
Human mutation - 1 Nov 2003
Krämer Franziska, Mohr Nicole, Kellner Ulrich, Rudolph Günther, Weber Bernhard H F
Abstract excerpt
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, c.310G>C,...
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