A Bartter’s Syndrome Mutation of ROMK1 Exerts Dominant Negative Effects on K+ Conductance

@article{Kunzelmann2000ABS,
  title={A Bartter’s Syndrome Mutation of ROMK1 Exerts Dominant Negative Effects on K+ Conductance},
  author={Karl Kunzelmann and Martin H{\"u}bner and Martin Vollmer and Rainer G. Ruf and Friedhelm Hildebrandt and Rainer Greger and Rainer Schreiber},
  journal={Cellular Physiology and Biochemistry},
  year={2000},
  volume={10},
  pages={117 - 124}
}
Mutations in the gene encoding the renal epithelial K+ channel ROMK1 (Kir 1.1) is one of the causes for Bartter’s syndrome, an autosomal recessive disease. It results in defective renal tubular transport in the thick ascending limb of the loop of Henle that leads to hypokalemic metabolic alkalosis and loss of salt. Two novel ROMK1 mutations, L220F/A156V, have been described recently in a compound heterozygote patient demonstrating typical manifestations of Bartter’s syndrome. Functional… 

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