CLCN5 mutation (R347X) associated with hypokalaemic metabolic alkalosis in a Turkish child: an unusual presentation of Dent's disease.
Besbas
Nesrin
N
Hacettepe University Faculty of Medicine, Department of Pediatric, Ankara, Turkey. nbesbas@hacettepe.edu.tr
Ozaltin
Fatih
F
Jeck
Nikola
N
Seyberth
Hannsjörg
H
Ludwig
Michael
M
D001477:Bartter Syndrome / Q000235:genetics*; D002648:Child; D018118:Chloride Channels / Q000235:genetics*; D006801:Humans; D007669:Kidney Calculi / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D011507:Proteinuria / Q000235:genetics*; D014421:Turkey
C097503:CLC-5 chloride channel; D018118:Chloride Channels