A Multi-Exon-Skipping Detection Assay Reveals Surprising Diversity of Splice Isoforms of Spinal Muscular Atrophy Genes

Humans have two near identical copies of Survival Motor Neuron gene: SMN1 and SMN2. Loss of SMN1 coupled with the predominant skipping of SMN2 exon 7 causes spinal muscular atrophy (SMA), a neurodegenerative disease. SMA patient cells devoid of SMN1 provide a powerful system to examine splicing patt...

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Detalles Bibliográficos
Autores principales: Singh, Natalia N., Seo, Joonbae, Rahn, Sarah J., Singh, Ravindra N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3501452/
https://www.ncbi.nlm.nih.gov/pubmed/23185376
http://dx.doi.org/10.1371/journal.pone.0049595

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3501452/
https://www.ncbi.nlm.nih.gov/pubmed/23185376
http://dx.doi.org/10.1371/journal.pone.0049595

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