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New nonsense mutation in the breast cancer-1 gene in a French site-specific breast cancer family

✍ Scribed by V Laplace-Marieze; N Presneau; C Girodet; V Vidal; C Vaurs; P Rio; Y-J Bignon

Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
84 KB
Volume
9
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

✦ Synopsis

Duchenne muscular dystrophy (DMD) is an X-linked degenerative disorder of muscle, caused by gross rearrangements by the dystrophin gene in two-thirds of cases. The remaining one-third of patients may carry more subtle mutations that are difficult to detect because of the large size and complexity of this gene (Roberts et al., 1994).

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