Literature DB >> 24462143

Not all pathogenic mutations are pathogenic: KCNH2 mutations in two sisters with tetralogy of Fallot.

Zahurul A Bhuiyan1, Abdulrahman Alswaid2, Marco Belfiore3, Saleh S Al-Ghamdi4, Juno Liang5, Jürg Schlaepffer6.   

Abstract

Entities:  

Keywords:  Exome sequencing; Genetics; Long QT syndrome; Tetralogy of Fallot; Unexpected findings

Mesh：

Substances：

Year:  2014        PMID： 24462143     DOI： 10.1016/j.ijcard.2013.12.242

Source DB:  PubMed          Journal:  Int J Cardiol        ISSN： 0167-5273            Impact factor:   4.164


× No keyword cloud information.
  1 in total

1.  Case Report: Prenatal Whole-Exome Sequencing Identified a Novel Nonsense Mutation of the KCNH2 Gene in a Fetus With Familial 2q14.2 Duplication.

Authors:  Jianlong Zhuang; Chunnuan Chen; Yuanbai Wang; Shuhong Zeng; Yu'e Chen; Yuying Jiang; Yingjun Xie; Gaoxiong Wang
Journal:  Front Genet       Date:  2022-07-05       Impact factor: 4.772
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.