A Duchenne Muscular Dystrophy Gene Hot Spot Mutation in Dystrophin-Deficient Cavalier King Charles Spaniels Is Amenable to Exon 51 Skipping

BACKGROUND: Duchenne muscular dystrophy (DMD), which afflicts 1 in 3500 boys, is one of the most common genetic disorders of children. This fatal degenerative condition is caused by an absence or deficiency of dystrophin in striated muscle. Most affected patients have inherited or spontaneous deleti...

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Detalhes bibliográficos
Main Authors: Walmsley, Gemma L., Arechavala-Gomeza, Virginia, Fernandez-Fuente, Marta, Burke, Margaret M., Nagel, Nicole, Holder, Angela, Stanley, Rachael, Chandler, Kate, Marks, Stanley L., Muntoni, Francesco, Shelton, G. Diane, Piercy, Richard J.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2010
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2800183/
https://ncbi.nlm.nih.gov/pubmed/20072625
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0008647
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