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Altered Channel Conductance States and Gating of GABA(A) Receptors by a Pore Mutation Linked to Dravet Syndrome
We identified a de novo missense mutation, P302L, in the γ-aminobutyric acid type A (GABA(A)) receptor γ2 subunit gene GABRG2 in a patient with Dravet syndrome using targeted next-generation sequencing. The mutation was in the cytoplasmic portion of the transmembrane segment M2 of the γ2 subunit tha...
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| Pubblicato in: | eNeuro |
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| Autori principali: | , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Society for Neuroscience
2017
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5301078/ https://ncbi.nlm.nih.gov/pubmed/28197552 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/ENEURO.0251-16.2017 |
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