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Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1
BACKGROUND: A newly defined congenital myasthenic syndrome (CMS) caused by DPAGT1 mutations has recently been reported. While many other CMS-associated proteins have discrete roles localised to the neuromuscular junction, DPAGT1 is ubiquitously expressed, modifying many proteins, and as such is an u...
محفوظ في:
| الحاوية / القاعدة: | J Neurol Neurosurg Psychiatry |
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| المؤلفون الرئيسيون: | , , , , , , , , , |
| التنسيق: | Artigo |
| اللغة: | Inglês |
| منشور في: |
2013
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| الموضوعات: | |
| الوصول للمادة أونلاين: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6044426/ https://ncbi.nlm.nih.gov/pubmed/23447650 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp-2012-304716 |
| الوسوم: |
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