Llwytho...
Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome
Congenital myasthenic syndromes (CMS) are a group of inherited disorders that arise from impaired signal transmission at the neuromuscular synapse. They are characterized by fatigable muscle weakness. This is a heterogenous group of disorders with 15 different genes implicated in the development of...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Ann N Y Acad Sci |
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| Prif Awduron: | , , , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
2012
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6044425/ https://ncbi.nlm.nih.gov/pubmed/23278575 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1749-6632.2012.06790.x |
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