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Two Molecular Pathways (NMD and ERAD) Contribute to a Genetic Epilepsy Associated with the GABA(A) Receptor GABRA1 PTC Mutation, 975delC, S326fs328X
Approximately one-third of human genetic diseases are caused by premature translation-termination codon (PTC)-generating mutations. These mutations in sodium channel and GABA(A) receptor genes have been associated with idiopathic generalized epilepsies, but the cellular consequences of the PTCs on t...
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| Autori principali: | , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Society for Neuroscience
2009
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2687144/ https://ncbi.nlm.nih.gov/pubmed/19261879 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.4512-08.2009 |
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