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Case Report: A Novel Variant c.2262+3A>T of the SCN5A Gene Results in Intron Retention Associated With Incessant Ventricular Tachycardias

Objective: Voltage-gated sodium channel Na(v)1.5 encoded by the SCN5A gene plays crucial roles in cardiac electrophysiology. Previous genetic studies have shown that mutations in SCN5A are associated with multiple inherited cardiac arrhythmias. Here, we investigated the molecular defect in a Chinese...

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Detalles Bibliográficos
Autores principales: Yin, Jie, Zhou, Jia, Chen, Jinlong, Xu, Ting, Zhang, Zhongman, Zhang, Han, Yuan, Chang, Cheng, Xueying, Qin, Yuming, Zheng, Bixia, Wang, Chunli, Yang, Shiwei, Jia, Zhanjun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8371685/
https://www.ncbi.nlm.nih.gov/pubmed/34422849
http://dx.doi.org/10.3389/fmed.2021.659119