Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION(®) long QT syndrome genetic test

BACKGROUND: Long QT syndrome (LQTS) is a potentially lethal, highly treatable cardiac channelopathy for which genetic testing has matured from discovery to translation and now clinical implementation. OBJECTIVES: Here we examine the spectrum and prevalence of mutations found in the first 2,500 unrel...

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Autores principales: Kapplinger, Jamie D., Tester, David J., Salisbury, Benjamin A., Carr, Janet L., Harris-Kerr, Carole, Pollevick, PhD, Guido D., Wilde, Arthur A. M., Ackerman, Michael J.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2009
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3049907/
https://ncbi.nlm.nih.gov/pubmed/19716085
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.hrthm.2009.05.021
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