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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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Detalles Bibliográficos
Autores principales:	Fratter, Carl, Dalgleish, Raymond, Allen, Stephanie K., Santos, Rosário, Abbs, Stephen, Tuffery-Giraud, Sylvie, Ferlini, Alessandra
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer International Publishing 2020
Materias:	Policy
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7608854/ https://www.ncbi.nlm.nih.gov/pubmed/32424326 http://dx.doi.org/10.1038/s41431-020-0643-7

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