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Survey on patients’ organisations’ knowledge and position paper on screening for inherited neuromuscular diseases in Europe

BACKGROUND: The development of new genetic testing methods and the approval of the first treatments raises questions regarding when and how to perform screening for inherited neuromuscular conditions. Screening directives and access to the different techniques is not uniform across Europe. The patie...

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Detalles Bibliográficos
Autores principales: Lamy, F., Ferlini, A., Evangelista, Teresinha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7874448/
https://www.ncbi.nlm.nih.gov/pubmed/33568176
http://dx.doi.org/10.1186/s13023-020-01670-8