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Oxidative Stress Triggers Body-Wide Skipping of Multiple Exons of the Spinal Muscular Atrophy Gene

Humans carry two nearly identical copies of Survival Motor Neuron gene: SMN1 and SMN2. Loss of SMN1 leads to spinal muscular atrophy (SMA), the most frequent genetic cause of infant mortality. While SMN2 cannot compensate for the loss of SMN1 due to predominant skipping of exon 7, correction of SMN2...

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Detalles Bibliográficos
Autores principales: Seo, Joonbae, Singh, Natalia N., Ottesen, Eric W., Sivanesan, Senthilkumar, Shishimorova, Maria, Singh, Ravindra N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4844106/
https://www.ncbi.nlm.nih.gov/pubmed/27111068
http://dx.doi.org/10.1371/journal.pone.0154390