Mild cystic fibrosis revealed by persistent hyponatremia during the French 2003 heat wave, associated with the S1455X C-terminus CFTR mutation.
Epaud
R
R
Girodon
E
E
Corvol
H
H
Niel
F
F
Guigonis
V
V
Clement
A
A
Feldmann
D
D
Bensman
A
A
Ulinski
T
T
D001774:Blood Chemical Analysis; D002648:Child; D002712:Chlorides / Q000032:analysis; D018389:Codon, Nonsense / Q000235:genetics*; D003550:Cystic Fibrosis / Q000150:complications / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005602:France; D006801:Humans; D007010:Hyponatremia / Q000209:etiology / Q000235:genetics*; D008297:Male; D010641:Phenotype; D013542:Sweat / Q000737:chemistry; D013696:Temperature
C505032:CFTR protein, human; D002712:Chlorides; D018389:Codon, Nonsense; D019005:Cystic Fibrosis Transmembrane Conductance Regulator