Whole Exome Sequencing as a Diagnostic Tool for Unidentified Muscular Dystrophy in a Vietnamese Family
Muscular dystrophies are a group of heterogeneous clinical and genetic disorders. Two siblings presented with characteristics like muscular dystrophy, abnormal white matter, and elevated serum creatine kinase level. The high throughput of whole exome sequencing (WES) makes it an efficient tool for o...
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| Principais autores: | , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
MDPI AG
2020-09-01
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| 叢編: | Diagnostics |
| 主題: | |
| 在線閱讀: | https://www.mdpi.com/2075-4418/10/10/741 |
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