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Novel CDH3 mutations in hypotrichosis with juvenile macular dystrophy

✍ Scribed by M. Indelman; J. Eason; M. Hummel; O. Loza; M. Suri; M. J. Leys; M. Bayne; F. L. Schwartz; E. Sprecher


Book ID
108694283
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
650 KB
Volume
32
Category
Article
ISSN
0307-6938

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Ten novel mutations in VMD2 associated w
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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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We report five novel VMD2 mutations in Best's macular dystrophy patients (S16F, I73N, R92H, V235L, and N296S). An SSCP analysis of the VMD2 11 exons revealed electrophoretic mobility shifts exclusively in exons 2, 3, 4, 6 and 8. Direct sequencing indicated that these shifts are caused by mono-alleli