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...

Descripción completa

Guardado en:
Detalles Bibliográficos
Publicado en:Eur J Hum Genet
Autores principales: Fratter, Carl, Dalgleish, Raymond, Allen, Stephanie K., Santos, Rosário, Abbs, Stephen, Tuffery-Giraud, Sylvie, Ferlini, Alessandra
Formato: Artigo
Lenguaje:Inglês
Publicado: Springer International Publishing 2020
Materias:
Policy
Acceso en línea: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
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares