Mild cystic fibrosis revealed by persistent hyponatremia during the French 2003 heat wave, associated with the S1455X C-terminus CFTR mutation

Clin Genet. 2005 Dec;68(6):552-3. doi: 10.1111/j.1399-0004.2005.00525.x.
No abstract available

Publication types

  • Case Reports
  • Comparative Study
  • Letter

MeSH terms

  • Blood Chemical Analysis
  • Child
  • Chlorides / analysis
  • Codon, Nonsense / genetics*
  • Cystic Fibrosis / complications
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • France
  • Humans
  • Hyponatremia / etiology
  • Hyponatremia / genetics*
  • Male
  • Phenotype*
  • Sweat / chemistry
  • Temperature*

Substances

  • CFTR protein, human
  • Chlorides
  • Codon, Nonsense
  • Cystic Fibrosis Transmembrane Conductance Regulator