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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...
Autores principales: | Farrugia, Audrey, Rollet, Kevin, Sinniger, Jérome, Brun, Susana, Spenle, Caroline, Ludes, Bertrand, Taleb, Omar, Mensah-Nyagan, Ayikoe Guy |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
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 |
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