title: CLCN5 mutation (R347X) associated with hypokalaemic metabolic alkalosis in a Turkish child: an unusual presentation of Dent's disease.
authors.affiliation: Hacettepe University Faculty of Medicine, Department of Pediatric, Ankara, Turkey. nbesbas@hacettepe.edu.tr
authors.forename: Nesrin
authors.initials: N
authors.lastname: Besbas
authors.forename: Fatih
authors.initials: F
authors.lastname: Ozaltin
authors.forename: Nikola
authors.initials: N
authors.lastname: Jeck
authors.forename: Hannsjörg
authors.initials: H
authors.lastname: Seyberth
authors.forename: Michael
authors.initials: M
authors.lastname: Ludwig
mesh_terms: 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
chemical_list: C097503:CLC-5 chloride channel; D018118:Chloride Channels