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Zebrafish model for congenital myasthenic syndrome reveals mechanisms causal to developmental recovery
Mutations in muscle ACh receptors cause slow-channel syndrome (SCS) and Escobar syndrome, two forms of congenital myasthenia. SCS is a dominant disorder with mutations reported for all receptor subunits except γ. Escobar syndrome is distinct, with mutations located exclusively in γ, and characterize...
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| Asıl Yazarlar: | , , , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
National Academy of Sciences
2012
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3491521/ https://ncbi.nlm.nih.gov/pubmed/23045675 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1215858109 |
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