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Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations

✍ Scribed by Cohn, A C; Turnbull, C; Ruddle, J B; Guymer, R H; Kearns, L S; Staffieri, S; Daggett, H T; Hewitt, A W; Mackey, D A


Book ID
109852615
Publisher
Nature Publishing Group
Year
2010
Tongue
English
Weight
549 KB
Volume
25
Category
Article
ISSN
0950-222X

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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