The mutation L69P in the PAS domain of the hERG potassium channel results in LQTS by trafficking deficiency

The congenital long QT syndrome (LQTS) is a cardiac disorder characterized by a prolonged QT interval on the electrocardiogram and an increased susceptibility to ventricular arrhythmias and sudden cardiac death. A frequent cause for LQTS is mutations in the KCNH2 gene (also known as the human ether-...

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Detalles Bibliográficos
Autores principales: Jenewein, Tina, Kanner, Scott A., Bauer, Daniel, Hertel, Brigitte, Colecraft, Henry M., Moroni, Anna, Thiel, Gerhard, Kauferstein, Silke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2020
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7188350/
https://www.ncbi.nlm.nih.gov/pubmed/32253972
http://dx.doi.org/10.1080/19336950.2020.1751522

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