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

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 Nav1.5 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 b...

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Bibliographic Details
Main Authors: Jie Yin, Jia Zhou, Jinlong Chen, Ting Xu, Zhongman Zhang, Han Zhang, Chang Yuan, Xueying Cheng, Yuming Qin, Bixia Zheng, Chunli Wang, Shiwei Yang, Zhanjun Jia
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-08-01
Series:Frontiers in Medicine
Subjects:
inherited arrhythmia
cardiac sodium channel
SCN5A
new donor site
abnormal RNA splicing
Online Access:https://www.frontiersin.org/articles/10.3389/fmed.2021.659119/full

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