Liddle syndrome caused by P616R mutation of the epithelial sodium channel beta subunit

Pediatr Nephrol. 2005 Jun;20(6):837-8. doi: 10.1007/s00467-004-1793-5.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Arginine
  • Child
  • Epithelial Sodium Channels
  • Genes, Dominant*
  • Humans
  • Hypertension / genetics*
  • Male
  • Mutation*
  • Proline
  • Sodium Channels / genetics*

Substances

  • Epithelial Sodium Channels
  • SCNN1B protein, human
  • Sodium Channels
  • Arginine
  • Proline