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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Eur J Hum Genet
Egile Nagusiak: Fratter, Carl, Dalgleish, Raymond, Allen, Stephanie K., Santos, Rosário, Abbs, Stephen, Tuffery-Giraud, Sylvie, Ferlini, Alessandra
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Springer International Publishing 2020
Gaiak:
Policy
Sarrera elektronikoa: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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