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Novel mutations in the CHST6 gene causing macular corneal dystrophy

โœ Scribed by C Abbruzzese; U Kuhn; F Molina; P Rama; M De Luca


Book ID
110725639
Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
654 KB
Volume
65
Category
Article
ISSN
0009-9163

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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