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...

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Detalles Bibliográficos
Autores principales: Clerx, Michael, Heijman, Jordi, Collins, Pieter, Volders, Paul G. A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
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

Internet

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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