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De novo NSF mutations cause early infantile epileptic encephalopathy
N‐ethylmaleimide‐sensitive factor (NSF) plays a critical role in intracellular vesicle transport, which is essential for neurotransmitter release. Herein, we, for the first time, document human monogenic disease phenotype of de novo pathogenic variants in NSF, that is, epileptic encephalopathy of ea...
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| 發表在: | Ann Clin Transl Neurol |
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| Main Authors: | , , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
John Wiley and Sons Inc.
2019
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6856629/ https://ncbi.nlm.nih.gov/pubmed/31675180 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.50917 |
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