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Mutations in MUSK causing congenital myasthenic syndrome impair MuSK–Dok-7 interaction
We describe a severe congenital myasthenic syndrome (CMS) caused by two missense mutations in the gene encoding the muscle specific receptor tyrosine kinase (MUSK). The identified MUSK mutations M605I and A727V are both located in the kinase domain of MuSK. Intracellular microelectrode recordings an...
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| Päätekijät: | , , , , , , , , |
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| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Oxford University Press
2010
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2876883/ https://ncbi.nlm.nih.gov/pubmed/20371544 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddq110 |
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