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The GLRA1 Missense Mutation W170S Associates Lack of Zn(2+) Potentiation with Human Hyperekplexia
Hyperekplexia is a neurological disorder associated primarily with mutations in the α1 subunit of glycine receptors (GlyRs) that lead to dysfunction of glycinergic inhibitory transmission. To date, most of the identified mutations result in disruption of surface expression or altered channel propert...
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Autores principales: | , , , |
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Formato: | Artigo |
Lenguaje: | Inglês |
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Society for Neuroscience
2013
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Materias: | |
Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3873627/ https://ncbi.nlm.nih.gov/pubmed/24198360 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.3240-13.2013 |
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