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Compound and heterozygous mutations of KCNQ1 in long QT syndrome with familial history of unexplained sudden death: Identified by analysis of whole exome sequencing and predisposing genes

INTRODUCTION: Long QT syndrome (LQTS) increases the risk of life‐threatening arrhythmia in young individuals with structurally normal hearts. Sixteen genes such as the KCNQ1, KCNH2, and SCN5A have been reported for association with LQTS. CASE PRESENTATION: We identified the compound heterozygous mut...

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Detalles Bibliográficos
Autores principales: Lin, Yubi, Zhao, Ting, He, Siqi, Huang, Jiana, Liu, Qianru, Yang, Zhe, Qin, Jiading, Yu, Nan, Lu, Hongyun, Lin, Xiufang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7358849/
https://www.ncbi.nlm.nih.gov/pubmed/31565860
http://dx.doi.org/10.1111/anec.12694