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P01 Correlation of internally deleted dystrophin and dystrophin-associated protein expression with clinical severity in Becker muscular dystrophy

โœ Scribed by K. Anthony; S. Cirak; S. Torelli; G. Tasca; L. Feng; V. Arechavala-Gomeza; A. Armaroli; M. Guglieri; C. Straathof; J. Verschuuren; A. Artsma-Rus; P. Helderman-van den Enden; K. Bushby; V. Straub; C. Sewry; A. Ferlini; E. Ricci; J. Morgan; F. Muntoni


Book ID
117670427
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
93 KB
Volume
22
Category
Article
ISSN
0960-8966

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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