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EMQN best practice guidelines for genetic testing in dystrophinopathies
Dystrophinopathies are X-linked diseases, including Duchenne muscular dystrophy and Becker muscular dystrophy, due to DMD gene variants. In recent years, the application of new genetic technologies and the availability of new personalised drugs have influenced diagnostic genetic testing for dystroph...
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| Publicat a: | Eur J Hum Genet |
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| Autors principals: | , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Springer International Publishing
2020
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7608854/ https://ncbi.nlm.nih.gov/pubmed/32424326 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-0643-7 |
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