H1153Y-KCNH2 Mutation Identified in a Sudden Arrhythmic Death Syndrome Case Alters Channel Gating

Long QT syndrome is one of the most common hereditary channelopathies inducing fatal arrhythmias and sudden cardiac death. We identified in a sudden arrhythmic death syndrome case a C-term KCNH2 mutation (c.3457C > T; p.His1153Tyr) classified as variant of unknown significance and functional impa...

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Detalles Bibliográficos
Autores principales: Farrugia, Audrey, Rollet, Kevin, Sinniger, Jérome, Brun, Susana, Spenle, Caroline, Ludes, Bertrand, Taleb, Omar, Mensah-Nyagan, Ayikoe Guy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8431075/
https://www.ncbi.nlm.nih.gov/pubmed/34502138
http://dx.doi.org/10.3390/ijms22179235

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8431075/
https://www.ncbi.nlm.nih.gov/pubmed/34502138
http://dx.doi.org/10.3390/ijms22179235

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