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Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations
Though dysfunction of neuromuscular junction (NMJ) is associated with congenital myasthenic syndrome (CMS), the proteins involved in neuromuscular transmission have not been completely identified. In this study, we aimed to identify a novel CMS gene in a consanguineous family with limb-girdle type C...
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| Publicado no: | Eur J Hum Genet |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5255960/ https://ncbi.nlm.nih.gov/pubmed/27966543 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.162 |
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