Identification of novel VMD2 gene mutati
β
D. Marchant; K. Gogat; S. Boutboul; M. PΓ©quignot; C. Sternberg; P. Dureau; O. Ro
π
Article
π
2001
π
John Wiley and Sons
π
English
β 193 KB
π 1 views
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