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Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition
Spinal muscular atrophy (SMA), a common neuromuscular disorder, is caused by homozygous absence of the survival motor neuron gene 1 (SMN1), while the disease severity is mainly influenced by the number of SMN2 gene copies. This correlation is not absolute, suggesting the existence of yet unknown fac...
Autores principales: | Hauke, Jan, Riessland, Markus, Lunke, Sebastian, Eyüpoglu, Ilker Y., Blümcke, Ingmar, El-Osta, Assam, Wirth, Brunhilde, Hahnen, Eric |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2009
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2638778/ https://www.ncbi.nlm.nih.gov/pubmed/18971205 http://dx.doi.org/10.1093/hmg/ddn357 |
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