Salt wasting and deafness resulting from mutations in two chloride channels.
Schlingmann
Karl P
KP
Department of Pediatrics, Philipps University of Marburg, Marburg, Germany.
Konrad
Martin
M
Jeck
Nikola
N
Waldegger
Petra
P
Reinalter
Stephan C
SC
Holder
Martin
M
Seyberth
Hannsjörg W
HW
Waldegger
Siegfried
S
D000818:Animals; D027321:Anion Transport Proteins / Q000235:genetics*; D001477:Bartter Syndrome / Q000235:genetics*; D018118:Chloride Channels / Q000235:genetics*; D002878:Chromosomes, Human, Pair 1; D004252:DNA Mutational Analysis; D003638:Deafness / Q000235:genetics*; D017353:Gene Deletion; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D007008:Hypokalemia; D007223:Infant; D007674:Kidney Diseases / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D020125:Mutation, Missense; D009865:Oocytes; D017354:Point Mutation; D014982:Xenopus laevis
D027321:Anion Transport Proteins; C440005:BSND protein, human; C412733:CLCNKB protein, human; D018118:Chloride Channels; D008565:Membrane Proteins