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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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| Pubblicato in: | Hum Genet |
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| Autori principali: | , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Springer Berlin Heidelberg
2020
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6981323/ https://ncbi.nlm.nih.gov/pubmed/31919629 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-019-02107-4 |
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