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The GABA(A) Receptor γ2 Subunit R43Q Mutation Linked to Childhood Absence Epilepsy and Febrile Seizures Causes Retention of α1β2γ2S Receptors in the Endoplasmic Reticulum
The GABA(A) receptor γ2 subunit mutation R43Q is an autosomal dominant mutation associated with childhood absence epilepsy and febrile seizures. Previously, we demonstrated that homozygous α1β3γ2L(R43Q) receptor whole-cell currents had reduced amplitude with unaltered time course, suggesting reduced...
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| Izdano u: | J Neurosci |
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| Glavni autori: | , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Society for Neuroscience
2004
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6729953/ https://ncbi.nlm.nih.gov/pubmed/15470132 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.2717-04.2004 |
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