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Duchenne肌营养不良家系临床表型及遗传学分析
OBJECTIVE: To study the phenotypes and genetic features of families with Duchenne muscular dystrophy (DMD). METHODS: Seven children from six families with DMD diagnosed by gene testing were enrolled. The clinical and genetic features of the families were analyzed. RESULTS: There were two new mutatio...
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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
2020
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7441519/ https://ncbi.nlm.nih.gov/pubmed/32800034 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2002179 |
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