Article
The polyproline site in hinge 2 influences the functional capacity of truncated dystrophins.
PLoS genetics - 20 May 2010
Banks Glen B, Judge Luke M, Allen James M, Chamberlain Jeffrey S
Abstract excerpt
Mutations in dystrophin can lead to Duchenne muscular dystrophy or the more mild form of the disease, Becker muscular dystrophy. The hinge 3 region in the rod domain of dystrophin is particularly prone to deletion mutations. In-frame deletions of hinge 3 are predicted to lead to BMD, however the severity of disease can vary considerably. Here we performed extensive structure-function analyses of truncated...
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