Article
Mutations in the ROMK gene in antenatal Bartter syndrome are associated with impaired K+ channel function.
Biochemical and biophysical research communications - 23 Jan 1997
Derst C, Konrad M, Köckerling A, Károlyi L, Deschenes G, Daut J, Karschin A, Seyberth H W
Abstract excerpt
Children with the antenatal variant of Bartter syndrome present the typical pattern of impaired salt reabsorption in the thick ascending limb of Henle's loop (TALH) resulting in marked ante- and postnatal salt wasting. In some of these patients mutations in the renal potassium channel ROMK (KCNJ1) have been found. We analyzed the electrophysiological function of five recently described ROMK channel mutations...
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