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The Polyproline Site in Hinge 2 Influences the Functional Capacity of Truncated Dystrophins
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 sev...
| Autores principales: | , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2010
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2873924/ https://www.ncbi.nlm.nih.gov/pubmed/20502633 http://dx.doi.org/10.1371/journal.pgen.1000958 |