Targeted next generation sequencing revealed a novel deletion-frameshift mutation of KCNH2 gene in a Chinese Han family with long QT syndrome: A case report and review of Chinese cases

INTRODUCTION: Long QT syndrome (LQTS) is electrocardiographically characterized by a prolonged QT interval and manifests predisposition to life-threatening arrhythmia which often leads to sudden cardiac death. Type 2 LQTS (LQT2) is the second most common subtype of LQTS and caused by mutations in KC...

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Detalles Bibliográficos
Autores principales: Du, Fengli, Wang, Guangxin, Wang, Dawei, Su, Guoying, Yao, Guixiang, Zhang, Wei, Su, Guohai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2020
Materias:
3400
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7220270/
https://www.ncbi.nlm.nih.gov/pubmed/32311972
http://dx.doi.org/10.1097/MD.0000000000019749

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