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Frameshift duplication resulting in truncated dystrophin in a patient with Duchenne muscular dystrophy

✍ Scribed by Xiuyuan Hu; Dennis E. Bulman; Peter N. Ray; Ronald G. Worton

Book ID
102258892
Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
203 KB
Volume
1
Category
Article
ISSN
1059-7794

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Almost all of the thousands of pathogenic mutations which have been described in the dystrophin gene either reduce protein production or remove large regions of the protein. This has severely limited the use of mutational information for the functional dissection of the dystrophin protein and increa