A nonsense SCN5A mutation associated with Brugada type ECG and intraventricular conduction defects

Mutations of SCN5A, gene encoding α-subunit of cardiac sodium channel, can cause mixed phenotypes of Brugada syndrome (BrS) and cardiac conduction diseases (CCD). We have identified a nucleotide change of SCN5A (4178T>G) which results in a nonsense mutation, L1393X, in a 36 year-old Caucasian man...

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Autores principales: Samani, Kaveh, Ai, Tomohiko, Towbin, Jeffrey A., Brugada, Ramon, Shuraih, Mossaab, Xi, Yutao, Wu, Geru, Cheng, Jie, Vatta, Matteo
Formato: Artigo
Lenguaje:Inglês
Publicado: 2009
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2747666/
https://ncbi.nlm.nih.gov/pubmed/19719504
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1540-8159.2009.02470.x
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