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Epidemiologic, molecular, and functional evidence suggest A572D-SCN5A should not be considered an independent LQT3-susceptibility mutation

BACKGROUND: Considering that approximately 2% of Caucasian controls host rare, nonsynonymous variants in the SCN5A-encoded cardiac sodium channel, caution must be exercised when interpreting SCN5A genetic test results for long QT syndrome (LQTS). OBJECTIVE: The purpose of this study was to determine...

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Huvudupphovsmän: Tester, David J., Valdivia, Carmen, Harris-Kerr, Carole, Alders, Marielle, Salisbury, Benjamin A., Wilde, Arthur A. M., Makielski, Jonathan C., Ackerman, Michael J.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2010
Ämnen:
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3074983/
https://ncbi.nlm.nih.gov/pubmed/20403459
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.hrthm.2010.04.014
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