Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.

@article{Yang2009BiophysicalPO,
  title={Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.},
  author={Tao H. Yang and Seo-Kyung Chung and Wei Zhang and Jonathan G. L. Mullins and Caroline H. McCulley and Jackie H. Crawford and Judith MacCormick and Carey-Anne Eddy and Andrew N Shelling and John Kerswell French and Ping Yang and Jonathan R Skinner and Dan M. Roden and Mark Ian Rees},
  journal={Circulation. Arrhythmia and electrophysiology},
  year={2009},
  volume={2 4},
  pages={
          417-26
        }
}
BACKGROUND Inherited long-QT syndrome is characterized by prolonged QT interval on the ECG, syncope, and sudden death caused by ventricular arrhythmia. Causative mutations occur mostly in cardiac potassium and sodium channel subunit genes. Confidence in mutation pathogenicity is usually reached through family genotype-phenotype tracking, control population studies, molecular modeling, and phylogenetic alignments; however, biophysical testing offers a higher degree of validating evidence… CONTINUE READING

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