Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy

Duchenne muscular dystrophy (DMD) is caused by a nonsense or frameshift mutation in the DMD gene, while its milder form, Becker muscular dystrophy (BMD) is caused by an in-frame deletion/duplication or a missense mutation. Interestingly, however, some patients with a nonsense mutation exhibit BMD ph...

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Detalles Bibliográficos
Autores principales: Okubo, Mariko, Noguchi, Satoru, Hayashi, Shinichiro, Nakamura, Harumasa, Komaki, Hirofumi, Matsuo, Masafumi, Nishino, Ichizo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2020
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6981323/
https://www.ncbi.nlm.nih.gov/pubmed/31919629
http://dx.doi.org/10.1007/s00439-019-02107-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6981323/
https://www.ncbi.nlm.nih.gov/pubmed/31919629
http://dx.doi.org/10.1007/s00439-019-02107-4

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