A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder and ventricular tachycardia

OBJECTIVES: Individual mutations in the SCN5A-encoding cardiac sodium channel α-subunit cause single cardiac arrhythmia disorders, but a few cause multiple distinct disorders. Here we report a family harboring an SCN5A mutation (L1821fs/10) causing a truncation of the C-terminus with a marked and co...

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Main Authors: Tan, Bi-Hua, Iturralde-Torres, Pedro, Medeiros-Domingo, Argelia, Nava, Santiago, Tester, David J, Valdivia, Carmen R., Tusié-Luna, Teresa, Ackerman, Michael J., Makielski, Jonathan C.
Formato: Artigo
Idioma:Inglês
Publicado em: 2007
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2100438/
https://ncbi.nlm.nih.gov/pubmed/17897635
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cardiores.2007.08.006
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