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TRAFFICKING-DEFICIENT MUTANT GABRG2 SUBUNIT AMOUNT MAY MODIFY EPILEPSY PHENOTYPE
OBJECTIVE: Genetic epilepsies and many other human genetic diseases display phenotypic heterogeneity, often for unknown reasons. Disease severity associated with nonsense mutations is dependent partially on mutation gene location and resulting efficiency of nonsense mediated mRNA decay (NMD) to elim...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3839255/ https://ncbi.nlm.nih.gov/pubmed/23720301 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.23947 |
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