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Whole-exome sequencing as a diagnostic tool in a family with episodic ataxia type 1
Complex neurological phenotypes are inherently difficult to diagnose. Whole-exome sequencing (WES) is a new tool in the neurologist's diagnostic armamentarium. WES can be applied to investigate the “diagnostic odyssey” cases. These cases involve patients with rare diseases of likely genetic eti...
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| 出版年: | Mayo Clin Proc |
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| 主要な著者: | , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2015
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4354704/ https://ncbi.nlm.nih.gov/pubmed/25659636 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mayocp.2015.01.001 |
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