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...

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Detalles Bibliográficos
Autores principales: Banks, Glen B., Judge, Luke M., Allen, James M., Chamberlain, Jeffrey S.
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2010
Materias:
Research Article
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

Internet

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

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