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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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Bibliografiske detaljer
Udgivet i:Eur J Hum Genet
Main Authors: Fratter, Carl, Dalgleish, Raymond, Allen, Stephanie K., Santos, Rosário, Abbs, Stephen, Tuffery-Giraud, Sylvie, Ferlini, Alessandra
Format: Artigo
Sprog:Inglês
Udgivet: Springer International Publishing 2020
Fag:
Online adgang: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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