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Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenita
Myotonia congenita is a genetic condition that is caused by mutations in the muscle chloride channel gene CLCN1 and characterized by delayed muscle relaxation and muscle stiffness. We here investigate the functional consequences of two novel disease-causing missense mutations, C277R and C277Y, using...
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| Главные авторы: | , , , , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Blackwell Science Inc
2012
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3547262/ https://ncbi.nlm.nih.gov/pubmed/22641783 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1113/jphysiol.2012.232785 |
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