相关实验视频

Updated: Jun 24, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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对KCNQ1变异的遗传特征改善了1型长QT综合征患者的风险分层

Charles Morgat1, Véronique Fressart2, Alessandra Pia Porretta1,3

  • 1CNMR Maladies Cardiaques Héréditaires Rares, APHP, Hôpital Bichat, 46 rue Henri Huchard, 75018 Paris, France.

Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology
|June 3, 2024
PubMed
概括

与其他1型长QT综合征 (LQT1) 患者相比,Jervell和Lange-Nielsen综合征 (JLNS) 变体的异构体载体患心脏事件的风险较低. 基因因素,如突变位置影响KCNQ1变种携带者的事件风险.

关键词:
KCNQ1 一个国家.异卵性载体是异卵性载体.杰维尔和朗格尼尔森综合征风险分层是指风险的分层.第1型长QT综合征

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