Partial Duplication and Poly(A) Insertion in KCNQ1 Not Detected by Next-Generation Sequencing in Jervell and Lange-Nielsen Syndrome

Bersell Kevin; Montgomery Jay A.; Kanagasundram Arvindh N.; Campbell Courtney M.; Chung Wendy K.; Macaya Daniela; Konecki David; Venter Eli; Shoemaker M. Benjamin; Roden Dan M.

首页> 外文期刊>Circulation. Arrhythmia and electrophysiology >Partial Duplication and Poly(A) Insertion in KCNQ1 Not Detected by Next-Generation Sequencing in Jervell and Lange-Nielsen Syndrome

【24h】

Partial Duplication and Poly(A) Insertion in KCNQ1 Not Detected by Next-Generation Sequencing in Jervell and Lange-Nielsen Syndrome

机译：Jervell和Lange-Nielsen综合征的下一代测序未检测到KCNQ1中的部分复制和poly（A）插入

获取原文

获取原文并翻译 | 示例

掌桥外文数据库（机构版） >>

开具论文收录证明 >>

文献代查 >>

页面导航

著录项
相似文献
相关主题

著录项

来源
《Circulation. Arrhythmia and electrophysiology》 |2016年第6期|共14页
作者
Bersell Kevin; Montgomery Jay A.; Kanagasundram Arvindh N.; Campbell Courtney M.; Chung Wendy K.; Macaya Daniela; Konecki David; Venter Eli; Shoemaker M. Benjamin; Roden Dan M.;
展开▼
作者单位

展开▼
收录信息
原文格式 PDF
正文语种 eng
中图分类产科学;
关键词
genetic testing; Jervell and Lange-Nielsen syndrome; KCNQ1; long QT syndrome; next-generation sequencing;

机译：遗传检测;Jervell和Lange-Nielsen综合征;KCNQ1;长QT综合征;下一代测序;

相似文献

外文文献
中文文献
专利

1. Partial Duplication and Poly(A) Insertion in KCNQ1 Not Detected by Next-Generation Sequencing in Jervell and Lange-Nielsen Syndrome [J] . Bersell Kevin, Montgomery Jay A., Kanagasundram Arvindh N., Circulation. Arrhythmia and electrophysiology . 2016,第6期

机译：Jervell和Lange-Nielsen综合征的下一代测序未检测到KCNQ1中的部分复制和poly（A）插入
2. A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report [J] . Motoi Nishimura, Marehiko Ueda, Ryota Ebata, BMC Medical Genetics . 2017,第1期

机译：同工型特异性第一个外显子中的新型KCNQ1无意义变异导致jervell和Lange-Nielsen综合征1和长QT综合征1：病例报告
3. A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report [J] . Motoi Nishimura, Marehiko Ueda, Ryota Ebata, BMC Medical Genetics . 2017,第1期

机译：同工型特异性第一个外显子中的新型KCNQ1无意义变异导致jervell和Lange-Nielsen综合征1和长QT综合征1：病例报告
4. Modification of swine oral fluid samples to enhance the sensitivity for detecting porcine reproductive and respiratory syndrome virus (PRRSV) isolation and genomic sequencing [C] . Daren Miller, Jeremy Pittman, Jeffery Zimmerman, Annual Meeting of The American Association of Swine Veterinarians . 2012

机译：猪口腔流体样品的修饰，提高猪生殖和呼吸综合征病毒（PRRSV）分离和基因组测序的敏感性
5. A Partial Duplication and Poly(A) Insertion in KCNQ1 Not Detected by Next-Generation Sequencing in Jervell and Lange-Nielsen Syndrome [O] . Kevin Bersell, Jay A. Montgomery, Arvindh N. Kanagasundram, -1

机译：Jervell和Lange-Nielsen综合征的下一代测序未检测到KCNQ1的部分复制和poly（A）插入
6. Early repolarization syndrome caused by de novo duplication of KCND3 detected by next-generation sequencing [O] . Samuel Chauveau, MD, Alexandre Janin, PharmD, Marianne Till, MD, PhD, 2017

机译：由下一代测序检测到的KCND3重新复制引起的早期复极综合征

Partial Duplication and Poly(A) Insertion in KCNQ1 Not Detected by Next-Generation Sequencing in Jervell and Lange-Nielsen Syndrome

著录项

相似文献

相关主题

期刊订阅