Digenic inheritance novel mutations in SCN5a and SNTA1 increase late I(Na) contributing to LQT syndrome

SCN5A and SNTA1 are reported susceptible genes for long QT syndrome (LQTS). This study was designed to elucidate a plausible pathogenic arrhythmia mechanism for the combined novel mutations R800L-SCN5A and A261V-SNTA1 on cardiac sodium channels. A Caucasian family with syncope and marginally prolong...

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Detalhes bibliográficos
Main Authors: Hu, Rou-Mu, Tan, Bi-Hua, Orland, Kate M., Valdivia, Carmen R., Peterson, Amber, Pu, Jielin, Makielski, Jonathan C.
Formato: Artigo
Idioma:Inglês
Publicado em: American Physiological Society 2013
Assuntos:
Cardiac Excitation and Contraction
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3625899/
https://ncbi.nlm.nih.gov/pubmed/23376825
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1152/ajpheart.00705.2012
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