Associated Papers
Genetic heterogeneity in patients with Bartter syndrome type 1.
Sun M et al.
Molecular Medicine Reports, 2017
Physiology of SLC12 transporters: lessons from inherited human genetic mutations and genetically engineered mouse knockouts.
Gagnon KB et al.
American Journal of Physiology. Cell Physiology, 2013
The pharmacological characteristics of molecular-based inherited salt-losing tubulopathies.
Nozu K et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome.
Brochard K et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2009
Mutations in the human Na-K-2Cl cotransporter (NKCC2) identified in Bartter syndrome type I consistently result in nonfunctional transporters.
Starremans PG et al.
Journal of the American Society of Nephrology : Jasn, 2003
Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome.
Vargas-Poussou R et al.
American Journal of Human Genetics, 1998
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