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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Detalhes bibliográficos
Publicado no:Neurol Genet
Main Authors: Cuscó, Ivon, Bernal, Sara, Blasco-Pérez, Laura, Calucho, Maite, Alias, Laura, Fuentes-Prior, Pablo, Tizzano, Eduardo F.
Formato: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7713720/
https://ncbi.nlm.nih.gov/pubmed/33324756
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000530
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