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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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Bibliografski detalji
Izdano u:Eur J Hum Genet
Glavni autori: Fratter, Carl, Dalgleish, Raymond, Allen, Stephanie K., Santos, Rosário, Abbs, Stephen, Tuffery-Giraud, Sylvie, Ferlini, Alessandra
Format: Artigo
Jezik:Inglês
Izdano: Springer International Publishing 2020
Teme:
Online pristup: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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