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脊髓性肌萎缩症患儿SMN1和SMN2基因拷贝数与临床表型的相关性分析
OBJECTIVE: To study the association of copy number of SMN1 and SMN2 with clinical phenotypes in children with spinal muscular atrophy (SMA). METHODS: A total of 45 children with SMA were enrolled. Multiplex ligation-dependent probe amplifcation was used to measure the gene copy numbers of SMN1 and S...
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| Udgivet i: | Zhongguo Dang Dai Er Ke Za Zhi |
|---|---|
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
中国当代儿科杂志编辑部
2019
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7389366/ https://ncbi.nlm.nih.gov/pubmed/30907347 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2019.03.010 |
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