...
首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >Characterization of human cardiac Na~+ channel mutations in the congenital long QT syndrome
【24h】

Characterization of human cardiac Na~+ channel mutations in the congenital long QT syndrome

机译:先天性长QT综合征中人心脏Na〜+通道突变的特征

获取原文
获取原文并翻译 | 示例
           

摘要

The congenital long QT syndrome (LQTS) is an inherited disorder characterized by a prolonged cardiac action potential. This delay in cellular repolarization can lead to potentially fatal arrhythmias. One form of LQTS (LQT3) has been linked to the human cardiac voltage-gated sodium channel gene (SCN5A). Three distinct mutations have been identified in the sodium channel gene. The biophysical and functional characteristics of each of these mutant channels were determined by heterologous expression of a recombinant human heart sodium channel in a mammalian cell line.
机译:先天性长QT综合征(LQTS)是一种遗传性疾病,其特征是心脏动作电位延长。细胞复极的这种延迟可能导致潜在的致命性心律失常。 LQTS的一种形式(LQT3)已与人类心脏电压门控钠通道基因(SCN5A)相关联。在钠通道基因中已经鉴定出三个不同的突变。通过在哺乳动物细胞系中重组人心脏钠通道的异源表达来确定每个突变通道的生物物理和功能特性。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱:kefu@zhangqiaokeyan.com

京公网安备:11010802029741号 ICP备案号:京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有
  • 客服微信

  • 服务号