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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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Dades bibliogràfiques
Publicat a:Eur J Hum Genet
Autors principals: Fratter, Carl, Dalgleish, Raymond, Allen, Stephanie K., Santos, Rosário, Abbs, Stephen, Tuffery-Giraud, Sylvie, Ferlini, Alessandra
Format: Artigo
Idioma:Inglês
Publicat: Springer International Publishing 2020
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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