How really rare are rare diseases?: the intriguing case of independent compound mutations in the long QT syndrome

J Cardiovasc Electrophysiol. 2003 Oct;14(10):1120-1. doi: 10.1046/j.1540-8167.2003.03339.x.
No abstract available

Publication types

  • Clinical Trial
  • Comparative Study
  • Controlled Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cation Transport Proteins*
  • Ether-A-Go-Go Potassium Channels
  • Gene Expression Profiling / methods*
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing / methods
  • KCNQ Potassium Channels
  • Long QT Syndrome / genetics*
  • Mutation / genetics*
  • NAV1.5 Voltage-Gated Sodium Channel
  • Pedigree
  • Phenotype
  • Potassium Channels / genetics*
  • Potassium Channels, Voltage-Gated*
  • Rare Diseases / genetics*
  • Sodium Channels / genetics*

Substances

  • Cation Transport Proteins
  • Ether-A-Go-Go Potassium Channels
  • Genetic Markers
  • KCNH6 protein, human
  • KCNQ Potassium Channels
  • NAV1.5 Voltage-Gated Sodium Channel
  • Potassium Channels
  • Potassium Channels, Voltage-Gated
  • SCN5A protein, human
  • Sodium Channels