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Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy

OBJECTIVE: Assessment of SMN2 copy number in patients with spinal muscular atrophy (SMA) is essential to establish careful genotype-phenotype correlations and predict disease evolution. This issue is becoming crucial in the present scenario of therapeutic advances with the perspective of SMA neonata...

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Detalles Bibliográficos
Autores principales:	Cuscó, Ivon, Bernal, Sara, Blasco-Pérez, Laura, Calucho, Maite, Alias, Laura, Fuentes-Prior, Pablo, Tizzano, Eduardo F.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7713720/ https://www.ncbi.nlm.nih.gov/pubmed/33324756 http://dx.doi.org/10.1212/NXG.0000000000000530

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