| Literature DB >> 11241846 |
D Marchant1, 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.
Abstract
ABSTRACT 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. Hum Mutat 17:235, 2001. Copyright 2001 Wiley-Liss, Inc.Entities:
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Year: 2001 PMID： 11241846 DOI： 10.1002/humu.9
Source DB: PubMed Journal: Hum Mutat ISSN： 1059-7794 Impact factor: 4.878