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A Common SCN5A Polymorphism Modulates the Biophysical Defects of SCN5A Mutations

BACKGROUND: Defects in the cardiac sodium channel gene, SCN5A, can cause a broad spectrum of inherited arrhythmia syndromes. After genotyping of a proband who presented with syncope, the SCN5A mutant P2006A and the common polymorphism H558R were identified. OBJECTIVE: The main objective of this stud...

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Detalhes bibliográficos
Main Authors: Shinlapawittayatorn, Krekwit, Du, Xi X., Liu, Haiyan, Ficker, Eckhard, Kaufman, Elizabeth S., Deschênes, Isabelle
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3050092/
https://ncbi.nlm.nih.gov/pubmed/21109022
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.hrthm.2010.11.034
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