日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing

一份关于接受布鲁加达综合征基因检测的患者中SCN5A编码的心脏钠通道突变的国际汇编

Kapplinger, Jamie D; Tester, David J; Alders, Marielle; Benito, Begoña; Berthet, Myriam; Brugada, Josep; Brugada, Pedro; Fressart, Véronique; Guerchicoff, Alejandra; Harris-Kerr, Carole; Kamakura, Shiro; Kyndt, Florence; Koopmann, Tamara T; Miyamoto, Yoshihiro; Pfeiffer, Ryan; Pollevick, Guido D; Probst, Vincent; Zumhagen, Sven; Vatta, Matteo; Towbin, Jeffrey A; Shimizu, Wataru; Schulze-Bahr, Eric; Antzelevitch, Charles; Salisbury, Benjamin A; Guicheney, Pascale; Wilde, Arthur A M; Brugada, Ramon; Schott, Jean-Jacques; Ackerman, Michael J

Epidemiologic, molecular, and functional evidence suggest A572D-SCN5A should not be considered an independent LQT3-susceptibility mutation

流行病学、分子生物学和功能学证据表明,A572D-SCN5A不应被视为独立的LQT3易感突变。

Tester, David J; Valdivia, Carmen; Harris-Kerr, Carole; Alders, Marielle; Salisbury, Benjamin A; Wilde, Arthur A M; Makielski, Jonathan C; Ackerman, Michael J

Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants

长QT综合征的基因检测:区分致病突变和良性变异

Kapa, Suraj; Tester, David J; Salisbury, Benjamin A; Harris-Kerr, Carole; Pungliya, Manish S; Alders, Marielle; Wilde, Arthur A M; Ackerman, Michael J

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test

对前2500例连续就诊的非亲缘关系患者进行FAMILION长QT综合征基因检测,分析其突变谱及突变发生率。

Kapplinger, Jamie D; Tester, David J; Salisbury, Benjamin A; Carr, Janet L; Harris-Kerr, Carole; Pollevick, Guido D; Wilde, Arthur A M; Ackerman, Michael J