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Brugada Syndrome Disease Phenotype Explained in Apparently Benign Sodium Channel Mutations

BACKGROUND: Brugada syndrome (BrS) is an arrhythmogenic disorder that has been linked to mutations in SCN5A, the gene encoding for the pore-forming α-subunit of the cardiac sodium channel. Typically, BrS mutations in SCN5A result in a reduction of sodium current with some mutations even exhibiting a...

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Hlavní autoři: Hoshi, Malcolm, Du, Xi X., Shinlapawittayatorn, Krekwit, Liu, Haiyan, Chai, Sam, Wan, Xiaoping, Ficker, Eckhard, Deschênes, Isabelle
Médium: Artigo
Jazyk:Inglês
Vydáno: 2014
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3989843/
https://ncbi.nlm.nih.gov/pubmed/24573164
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCGENETICS.113.000292
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