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Late Onset is Common in Best Macular Dystrophy Associated with VMD2 Gene Mutations

✍ Scribed by Agnes B. Renner; Hilmar Tillack; Hannelore Kraus; Franziska Krämer; Nicole Mohr; Bernhard H.F. Weber; Michael H. Foerster; Ulrich Kellner

Book ID
116803325
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
267 KB
Volume
112
Category
Article
ISSN
0161-6420

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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 heteroz

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