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Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene

✍ Scribed by Ashton, Emma J; Yau, Shu C; Deans, Zandra C; Abbs, Stephen J


Book ID
110027216
Publisher
Nature Publishing Group
Year
2007
Tongue
English
Weight
129 KB
Volume
16
Category
Article
ISSN
1018-4813

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## Communicated by Johan den Dunnen Straightforward detectable Duchenne muscular dystrophy (DMD) gene rearrangements, such as deletions or duplications involving an entire exon or more, are involved in about 70% of dystrophinopathies. In the remaining 30% a variety of point mutations or ''small''