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二代测序技术在杜氏肌营养不良症家系中的分子诊断应用
The purpose of this study is to analyze the family's clinical data of 22 children who were given an intended clinical diagnosis of Duchenne muscular dystrophy (DMD), and to explore the clinical value of next-generation sequencing (NGS) in the molecular diagnosis of DMD. The probands were simult...
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| Pubblicato in: | Zhongguo Dang Dai Er Ke Za Zhi |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
中国当代儿科杂志编辑部
2019
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7389351/ https://ncbi.nlm.nih.gov/pubmed/30907348 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2019.03.011 |
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