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Myasthenic syndrome AChRα C-loop mutant disrupts initiation of channel gating
Congenital myasthenic syndromes (CMSs) are neuromuscular disorders that can be caused by defects in acetylcholine receptor (AChR) function. Disease-associated point mutants can reveal the unsuspected functional significance of mutated residues. We identified two pathogenic mutations in the extracel...
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| Hlavní autoři: | , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
American Society for Clinical Investigation
2012
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3386830/ https://ncbi.nlm.nih.gov/pubmed/22728938 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI63415 |
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