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The Intronic GABRG2 Mutation, IVS6+2T→G, Associated with Childhood Absence Epilepsy Altered Subunit mRNA Intron Splicing, Activated Nonsense-Mediated Decay, and Produced a Stable Truncated γ2 Subunit
The intronic GABRG2 mutation, IVS6+2T→G, was identified in an Australian family with childhood absence epilepsy and febrile seizures (Kananura et al., 2002). The GABRG2 intron 6 splice donor site was found to be mutated from GT to GG. We generated wild-type and mutant γ2 subunit bacterial artificial...
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| Main Authors: | , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Society for Neuroscience
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3357398/ https://ncbi.nlm.nih.gov/pubmed/22539854 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.5332-11.2012 |
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