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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...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
American Society for Clinical Investigation
2012
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| Θέματα: | |
| Διαθέσιμο Online: | 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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