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Hypoxia is a modifier of SMN2 splicing and disease severity in a severe SMA mouse model
Spinal muscular atrophy (SMA) is a progressive neurodegenerative disease associated with low levels of the essential survival motor neuron (SMN) protein. Reduced levels of SMN is due to the loss of the SMN1 gene and inefficient splicing of the SMN2 gene caused by a C>T mutation in exon 7. Global...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2012
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3441125/ https://ncbi.nlm.nih.gov/pubmed/22763238 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds263 |
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