首页> 美国卫生研究院文献>HeartRhythm Case Reports >Even pore-localizing missense variants at highly conserved sites in KCNQ1-encoded Kv7.1 channels may have wild-type function and not cause type 1 long QT syndrome: Do not rely solely on the genetic test companys interpretation

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Even pore-localizing missense variants at highly conserved sites in KCNQ1-encoded Kv7.1 channels may have wild-type function and not cause type 1 long QT syndrome: Do not rely solely on the genetic test companys interpretation

机译：甚至在KCNQ1编码的Kv7.1通道中高度保守的位点上的孔局部定位错义变体也可能具有野生型功能并且不会引起1型长QT综合征：不要仅仅依靠基因测试公司的解释

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期刊名称 HeartRhythm Case Reports
作者
Ashley Paquin; Dan Ye; David J. Tester; Jamie D. Kapplinger; Michael T. Zimmermann; Michael J. Ackerman;
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作者单位

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年(卷),期 2018(4),2
年度 2018
页码 37–44
总页数 8
原文格式 PDF
正文语种
中图分类
关键词
Arrhythmia Cardiac arrest Genetics Long QT syndrome Pediatrics;

机译：心律失常;心脏骤停;遗传学;长QT综合征;儿科;

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外文文献

1. Variants in the 3′ untranslated region of the KCNQ1-encoded K v7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner [J] . AminA.S., GiudicessiJ.R., TijsenA.J., European Heart Journal: The Journal of the European Society of Cardiology . 2012,第6期

机译：KCNQ1编码的K v7.1钾通道3'非翻译区的变异以等位基因特异性方式改变了1型长QT综合征患者的疾病严重程度
2. Variants in the 3′ untranslated region of the KCNQ1-encoded K_v7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner [J] . Ahmad S. Amin12† John R. Giudicessi345† Anke J. Tijsen12† Anne M. Spanjaart12 Yolan J. Reckman12 Christine A. Klemens12 Michael W. Tanck6 Jamie D. Kapplinger345 Nynke Hofman7 Moritz F. Sinner8 Martina Müller89 Wino J. Wijnen12 Hanno L. Tan12 Connie R. Bezzina12 Esther E. Creemers12 Arthur A. M. Wilde12* Michael J. Ackerman345* and Yigal M. Pinto12* European Heart Journal . 2012,第6期

机译：KCNQ1编码的K _{v 7.1钾通道3'非翻译区的变异以等位基因特异性方式改变1型长QT综合征患者的疾病严重程度}
3. High incidence of functional ion-channel abnormalities in a consecutive Long QT cohort with novel missense genetic variants of unknown significance [J] . Annette Buur Steffensen, Marwan M. Refaat, Jens-Peter David, Scientific reports. . 2015,第1期

机译：连续的长QT队列中功能离子通道异常的发生率很高，且具有未知意义的新型错义遗传变异
4. Editors choiceFast Track: Variants in the 3′ untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner [O] . Ahmad S. Amin, John R. Giudicessi, Anke J. Tijsen, -1

机译：快速选择：KCNQ1编码的Kv7.1钾通道的3非翻译区的变异以等位基因特异性方式改变了1型长QT综合征患者的疾病严重程度
5. Variants in the 3′ untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner [O] . Amin, Ahmad S., Giudicessi, John R., Tijsen, Anke J., 2011

机译：KCNQ1编码的Kv7.1钾通道的3'非翻译区的变异以等位基因特异性方式改变了1型长QT综合征患者的疾病严重程度

Even pore-localizing missense variants at highly conserved sites in KCNQ1-encoded Kv7.1 channels may have wild-type function and not cause type 1 long QT syndrome: Do not rely solely on the genetic test companys interpretation

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