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Translational approach to address therapy in myotonia permanens due to a new SCN4A mutation
OBJECTIVE: We performed a clinical, functional, and pharmacologic characterization of the novel p.P1158L Nav1.4 mutation identified in a young girl presenting a severe myotonic phenotype. METHODS: Wild-type hNav1.4 channel and P1158L mutant were expressed in tsA201 cells for functional and pharmacol...
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| Publicado no: | Neurology |
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| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Lippincott Williams & Wilkins
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4891212/ https://ncbi.nlm.nih.gov/pubmed/27164696 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000002721 |
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