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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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| 出版年: | J Zhejiang Univ Sci B |
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| 主要な著者: | , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Zhejiang University Press
2016
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| 主題: | |
| オンライン･アクセス: | 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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