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SCN4A as modifier gene in patients with myotonic dystrophy type 2
A patient with an early severe myotonia diagnosed for Myotonic Dystrophy type 2 (DM2) was found bearing the combined effects of DM2 mutation and Nav1.4 S906T substitution. To investigate the mechanism underlying his atypical phenotype,whole-cell patch-clamp in voltage- and current-clamp mode was per...
में बचाया:
| में प्रकाशित: | Sci Rep |
|---|---|
| मुख्य लेखकों: | , , , , , , , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
Nature Publishing Group UK
2018
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6056531/ https://ncbi.nlm.nih.gov/pubmed/30038349 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-29302-z |
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