Novel CDH3 mutations in hypotrichosis with juvenile macular dystrophy
β 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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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
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