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The startle disease mutation α1S270T predicts shortening of glycinergic synaptic currents
KEY POINTS: Loss‐of‐function mutations in proteins found at glycinergic synapses, most commonly in the α1 subunit of the glycine receptor (GlyR), cause the startle disease/hyperekplexia channelopathy in man. It was recently proposed that the receptors responsible are presynaptic homomeric GlyRs, rat...
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| 發表在: | J Physiol |
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| Main Authors: | , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
John Wiley and Sons Inc.
2020
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7649747/ https://ncbi.nlm.nih.gov/pubmed/32445491 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1113/JP279803 |
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