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Prevalence and Spectrum of Large Deletions or Duplications in the Major Long QT Syndrome-Susceptibility Genes and Implications for Long QT Syndrome Genetic Testing

Long QT Syndrome (LQTS) is a cardiac channelopathy associated with syncope, seizures, and sudden death. Approximately 75% of LQTS is due to mutations in genes encoding for three cardiac ion channel alpha-subunits (LQT1-3). However, traditional mutational analyses have limited detection capabilities...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Tester, David J., Benton, Amber J., Train, Laura, Deal, Barbara, Baudhuin, Linnea M., Ackerman, Michael J.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2010
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2950837/
https://ncbi.nlm.nih.gov/pubmed/20920651
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.amjcard.2010.06.022
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