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Predicting changes to I(Na) from missense mutations in human SCN5A
Mutations in SCN5A can alter the cardiac sodium current I(Na) and increase the risk of potentially lethal conditions such as Brugada and long-QT syndromes. The relation between mutations and their clinical phenotypes is complex, and systems to predict clinical severity of unclassified SCN5A variants...
Autores principales: | Clerx, Michael, Heijman, Jordi, Collins, Pieter, Volders, Paul G. A. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6109095/ https://www.ncbi.nlm.nih.gov/pubmed/30143662 http://dx.doi.org/10.1038/s41598-018-30577-5 |
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