A Heterozygous Deletion Mutation in the Cardiac Sodium Channel Gene SCN5A with Loss- and Gain-of-Function Characteristics Manifests as Isolated Conduction Disease, without Signs of Brugada or Long QT Syndrome

BACKGROUND: The SCN5A gene encodes for the α-subunit of the cardiac sodium channel Na(V)1.5, which is responsible for the rapid upstroke of the cardiac action potential. Mutations in this gene may lead to multiple life-threatening disorders of cardiac rhythm or are linked to structural cardiac defec...

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Main Authors: Zumhagen, Sven, Veldkamp, Marieke W., Stallmeyer, Birgit, Baartscheer, Antonius, Eckardt, Lars, Paul, Matthias, Remme, Carol Ann, Bhuiyan, Zahurul A., Bezzina, Connie R., Schulze-Bahr, Eric
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2013
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3695936/
https://ncbi.nlm.nih.gov/pubmed/23840796
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0067963
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