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Novel GLRA1 Missense Mutation (P250T) in Dominant Hyperekplexia Defines an Intracellular Determinant of Glycine Receptor Channel Gating
Missense mutations as well as a null allele of the human glycine receptor α1 subunit gene GLRA1 result in the neurological disorder hyperekplexia [startle disease, stiff baby syndrome, Mendelian Inheritance in Man (MIM) #149400]. In a pedigree showing dominant transmission of hyperekplexia, we ident...
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| 出版年: | J Neurosci |
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| 主要な著者: | , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Society for Neuroscience
1999
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6782149/ https://ncbi.nlm.nih.gov/pubmed/9920650 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.19-03-00869.1999 |
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