Genetic Analysis of Jervel and Lange Nielsen Syndrome with a Novel Mutation in KCNQ1 Gene

Indian J Pediatr. 2016 Sep;83(9):1038-9. doi: 10.1007/s12098-016-2072-8. Epub 2016 Mar 4.
No abstract available

Publication types

  • Letter

MeSH terms

  • Genetic Testing
  • Humans
  • Jervell-Lange Nielsen Syndrome / genetics*
  • KCNQ1 Potassium Channel / genetics*
  • Long QT Syndrome
  • Mutation
  • Pedigree

Substances

  • KCNQ1 Potassium Channel
  • KCNQ1 protein, human