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Deletion of exon 26 of the dystrophin gene is associated with a mild Becker muscular dystrophy phenotype

With the possible introduction of exon skipping therapy in Duchenne muscular dystrophy, it has become increasingly important to know the role of each exon of the dystrophin gene to protein expression, and thus the phenotype. In this report, we present two related men with an unusually mild BMD assoc...

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Detalles Bibliográficos
Autores principales: Witting, Nanna, Duno, Morten, Vissing, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore SpA 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3298095/
https://www.ncbi.nlm.nih.gov/pubmed/22616200