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EOG IN A LARGE FAMILY WITH HEREDITARY MACULAR DEGENERATION : (Best's Vitelliform Macular Dystrophy) Identification of Gene Carriers

✍ Scribed by W. THORBURN; S. NORDSTRÖM


Book ID
114920834
Publisher
Wiley (Blackwell Publishing)
Year
2009
Tongue
English
Weight
376 KB
Volume
56
Category
Article
ISSN
1755-375X

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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