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Sporadic occurrence of Duchenne Muscular Dystrophy: evidence for new mutation

✍ Scribed by C. Thomas Caskey; Robert L. Nussbaum; Leslie C. Cohan; Lynda Pollack


Book ID
119839090
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
736 KB
Volume
18
Category
Article
ISSN
0009-9163

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Antisense-mediated exon skipping aiming for reading frame restoration is currently a promising therapeutic application for Duchenne muscular dystrophy (DMD). This approach is mutation specific, but as the majority of DMD patients have deletions that cluster in hotspot regions, the skipping of a smal