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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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Detalhes bibliográficos
Main Authors: Huang, Xuan, Tian, Mengnan, Hernandez, Ciria C., Hu, Ningning, Macdonald, Robert L.
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
Assuntos:
Acesso em linha: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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