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GENETIC VARIANTS IN SCN5A PROMOTER PREDICT ARRHYTHMIA PHENOTYPE SEVERITY IN PATIENTS WITH HETEROZYGOUS LOSS-OF-FUNCTION MUTATIONS

机译：SCN5A的基因变异促进功能丧失突变的患者预测心律失常的表型严重性

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Park Ji Kwon; Martin Lisa; Zhang Xue; Jegga Anil; Benson D. Woodrow;
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年度 2012
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1. Genetic variants in SCN5A promoter are associated with arrhythmia phenotype severity in patients with heterozygous loss-of-function mutation [J] . ParkJ.K., MartinL.J., ZhangX., Heart rhythm: the official journal of the Heart Rhythm Society . 2012,第7期

机译：SCN5A启动子的遗传变异与杂合性功能丧失突变患者的心律失常表型严重程度有关
2. Loss-of-Function SCN5A Mutations Associated With Sinus Node Dysfunction, Atrial Arrhythmias, and Poor Pacemaker Capture [J] . Chiang David Y., Kim Jeffrey J., Valdes Santiago O., Circulation. Arrhythmia and electrophysiology . 2015,第5期

机译：与窦房结功能障碍，房性心律不齐和起搏器捕获不良有关的功能丧失SCN5A突变
3. Disease Phenotypes and Mechanisms of iPSC-Derived Cardiomyocytes From Brugada Syndrome Patients With a Loss-of-Function SCN5A Mutation [J] . Li Wener, Stauske Michael, Luo Xiaojing, Frontiers in Cell and Developmental Biology . 2020,第1期

机译：Brugada综合征患者失去功能性SCN5A突变的疾病表型和IPSC衍生心肌细胞的机制
4. The Spectrum of SCN5A Gene Mutations in Singapore Brugada Syndrome Patients [C] . Rita Yu Yin Yong, BY. Tan, LSH. Gan, International Molecular Medicine Tri-Conference. . 2016

机译：新加坡巴鲁达综合征患者SCN5A基因突变的谱
5. Functional Characterization of SCN5A Variants Associated with Cardiac Arrhythmias and Sudden Death [D] . Gando, Ivan . 2020

机译：心脏心律失常和猝死相关的SCN5A变体功能表征
6. Genetic variants in SCN5A promoter are associated with arrhythmia phenotype severity in patients with heterozygous loss of function mutation [O] . Ji Kwon Park, Lisa J. Martin, Xue Zhang, -1

机译：SCN5A启动子的遗传变异与功能突变杂合损失患者的心律失常表型严重性有关
7. SEVERE LOSS-OF-FUNCTION SCN5A MUTATIONS ASSOCIATED WITH SINUS NODE DYSFUNCTION, ATRIAL ARRHYTHMIAS, AND POOR PACEMAKER CAPTURE [O] . Chiang David, Kim Jeffrey, Valdes Santiago, 2015

机译：与窦房结功能不全，房性心律失常和起搏器不良相关的严重功能丧失SCN5A突变

GENETIC VARIANTS IN SCN5A PROMOTER PREDICT ARRHYTHMIA PHENOTYPE SEVERITY IN PATIENTS WITH HETEROZYGOUS LOSS-OF-FUNCTION MUTATIONS

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