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Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy

✍ Scribed by D. Marchant; K. Gogat; S. Boutboul; M. Péquignot; C. Sternberg; P. Dureau; O. Roche; Y. Uteza; J.C. Hache; B. Puech; V. Puech; V. Dumur; M. Mouillon; F.L. Munier; D.F. Schorderet; C. Marsac; J.L. Dufier; M. Abitbol

Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
193 KB
Volume
17
Category
Article
ISSN
1059-7794

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✦ Synopsis

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-allelic transition in exons 2, 4, 6, 8 and transversion in exons 3 and 6. Five novel "silent" polymorphisms are also reported: 213T>C, 323C>A, 1514A>G, 1661C>T, and 1712T>C.

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