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The GABRG2 Nonsense Mutation, Q40X, Associated with Dravet Syndrome Activated NMD and Generated a Truncated Subunit That was Partially Rescued by aminoglycoside-Induced Stop Codon Read-through
The GABRG2 nonsense mutation, Q40X, is associated with the severe epilepsy syndrome, Dravet syndrome, and is predicted to generate a premature translation-termination codon (PTC) in the GABA(A) receptor γ2 subunit mRNA in a position that codes for the first amino acid of the mutant subunit. We deter...
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| Główni autorzy: | , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
2012
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3762464/ https://ncbi.nlm.nih.gov/pubmed/22750526 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nbd.2012.06.013 |
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