Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome.

@article{Eddy2008IdentificationOL,
  title={Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome.},
  author={C E Eddy and Judith MacCormick and Seo-Kyung Chung and Jackie Robyn Crawford and Donald R. Love and Mark Ian Rees and Jonathan R Skinner and Andrew N Shelling},
  journal={Heart rhythm},
  year={2008},
  volume={5 9},
  pages={1275-81}
}
BACKGROUND Sequencing or denaturing high-performance liquid chromatography (dHPLC) analysis of the known genes associated with the long QT syndrome (LQTS) fails to identify mutations in approximately 25% of subjects with inherited LQTS. Large gene deletions and duplications can be missed with these methodologies. OBJECTIVE The purpose of this study was to determine whether deletions and/or duplications of one or more exons of the main LQTS genes were present in an LQTS mutation-negative… CONTINUE READING

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