Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel

BACKGROUND: Brugada syndrome (Brs) and long QT syndrome (LQTs) are the most observed “inherited primary arrhythmia syndromes” and “channelopathies”, which lead to sudden cardiac death. METHODS: Detailed clinical information of Brs and LQTs patients was collected. Genomic DNA samples of peripheral bl...

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Detalles Bibliográficos
Autores principales: Chen, Jia, Li, Hong, Guo, Sicheng, Yang, Zhe, Sun, Shaoping, Zeng, JunJie, Gou, Hongjuan, Chen, Yechang, Wang, Feng, Lin, Yanping, Huang, Kun, Yue, Hong, Ma, Yuting, Lin, Yubi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9615250/
https://www.ncbi.nlm.nih.gov/pubmed/36303204
http://dx.doi.org/10.1186/s13023-022-02542-z

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