Partial Duplication and Poly(A) Insertion in KCNQ1 Not Detected by Next-Generation Sequencing in Jervell and Lange-Nielsen Syndrome

Circ Arrhythm Electrophysiol. 2016 Jun;9(6):e004081. doi: 10.1161/CIRCEP.116.004081.
No abstract available

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Electrocardiography
  • Female
  • High-Throughput Nucleotide Sequencing*
  • Humans
  • Jervell-Lange Nielsen Syndrome / genetics*
  • Jervell-Lange Nielsen Syndrome / physiopathology*
  • KCNQ1 Potassium Channel / genetics*
  • Middle Aged
  • Mutation

Substances

  • KCNQ1 Potassium Channel