Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter- and intra-patient variability

Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder caused by mutations in the SMN1 gene. The homologous copy (SMN2) is always present in SMA patients. SMN1 gene transcripts are usually full-length (FL), but exon 7 is spliced out in a high proportion of SMN2 transcripts (delta7) (Δ7)....

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Main Authors: Also-Rallo, Eva, Alías, Laura, Martínez-Hernández, Rebeca, Caselles, Lidia, Barceló, María J, Baiget, Montserrat, Bernal, Sara, Tizzano, Eduardo F
格式: Artigo
語言:Inglês
出版: Nature Publishing Group 2011
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3190259/
https://ncbi.nlm.nih.gov/pubmed/21610752
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.89
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