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Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy
Duchenne Muscular Dystrophy (DMD) is a lethal progressive muscle-wasting disease. New treatment strategies relying on DMD gene exon-skipping therapy have recently been approved and about 30% of patients could be amenable to exon 51, 53 or 45 skipping. We evaluated the spectrum of deletions reported...
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| Publicado no: | Sci Rep |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group UK
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7862591/ https://ncbi.nlm.nih.gov/pubmed/33542429 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-021-82725-z |
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