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
✦ LIBER ✦
Variant Phenotype of Best Vitelliform Macular Dystrophy Associated with Compound Heterozygous Mutations in VMD2
✍ Scribed by Schatz, Patrik; Klar, Joakim; Andréasson, Sten; Ponjavic, Vesna; Dahl, Niklas
- Book ID
- 126980294
- Publisher
- Informa plc
- Year
- 2006
- Tongue
- English
- Weight
- 978 KB
- Volume
- 27
- Category
- Article
- ISSN
- 1381-6810
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