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Association between SMN2 methylation and disease severity in Chinese children with spinal muscular atrophy
The homozygous loss of the survival motor neuron 1 (SMN1) gene is the primary cause of spinal muscular atrophy (SMA), a neuromuscular degenerative disease. A genetically similar gene, SMN2, which is not functionally equivalent in all SMA patients, modifies the clinical SMA phenotypes. We analyzed th...
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| Publié dans: | J Zhejiang Univ Sci B |
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| Auteurs principaux: | , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Zhejiang University Press
2016
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4710843/ https://ncbi.nlm.nih.gov/pubmed/26739529 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1631/jzus.B1500072 |
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