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

Krämer, F. ; Mohr, N. ; Kellner, U. ; Rudolph, G. ; Weber, Bernhard H. F.


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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