Salt wasting and deafness resulting from mutations in two chloride channels

N Engl J Med. 2004 Mar 25;350(13):1314-9. doi: 10.1056/NEJMoa032843.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Anion Transport Proteins / genetics*
  • Bartter Syndrome / genetics*
  • Chloride Channels / genetics*
  • Chromosomes, Human, Pair 1
  • DNA Mutational Analysis
  • Deafness / genetics*
  • Gene Deletion
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Hypokalemia
  • Infant
  • Kidney Diseases / genetics*
  • Male
  • Membrane Proteins / genetics*
  • Membrane Proteins / metabolism
  • Mutation, Missense*
  • Oocytes
  • Point Mutation
  • Xenopus laevis

Substances

  • Anion Transport Proteins
  • BSND protein, human
  • CLCNKB protein, human
  • Chloride Channels
  • Membrane Proteins