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Breakpoint junction features of seven DMD deletion mutations
Duchenne muscular dystrophy is an inherited muscle wasting disease with severe symptoms and onset in early childhood. Duchenne muscular dystrophy is caused by loss-of-function mutations, most commonly deletions, within the DMD gene. Characterizing the junction points of large genomic deletions facil...
Guardat en:
| Publicat a: | Hum Genome Var |
|---|---|
| Autors principals: | , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Nature Publishing Group UK
2019
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6804640/ https://ncbi.nlm.nih.gov/pubmed/31645977 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-019-0070-x |
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