Expression defect of the rare variant/Brugada mutation R1512W depends upon the SCN5A splice variant background and can be rescued by mexiletine and the common polymorphism H558R

Background: Mutations in SCN5A that decrease Na current underlie arrhythmia syndromes such as the Brugada syndrome (BrS). SCN5A in humans has two splice variants, one lacking a glutamine at position 1077 (Q1077del) and one containing Q1077. We investigated the effect of splice variant background on...

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Detalles Bibliográficos
Autores principales: Hu, Rou-Mu, Song, Evelyn J., Tester, David J., Deschenes, Isabelle, Ackerman, Michael J., Makielski, Jonathan C., Tan, Bi-Hua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2021
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7872018/
https://www.ncbi.nlm.nih.gov/pubmed/33535892
http://dx.doi.org/10.1080/19336950.2021.1875645

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7872018/
https://www.ncbi.nlm.nih.gov/pubmed/33535892
http://dx.doi.org/10.1080/19336950.2021.1875645

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