Associated Papers
Machine Learning to Identify Genetic Salt-Losing Tubulopathies in Hypokalemic Patients.
Wan ER et al.
Kidney International Reports, 2023
36938092 (PubMed )
Supplement: mmc1.pdf
Cryo-EM structure of the human sodium-chloride cotransporter NCC.
Nan J et al.
Science Advances, 2022
36351028 (PubMed )
Supplement: sciadv.add7176_sm.pdf
Genetic and Biological Effects of SLC12A3, a Sodium-Chloride Cotransporter, in Gitelman Syndrome and Diabetic Kidney Disease.
Li N et al.
Frontiers in Genetics, 2022
Allele-specific RT-PCR for the rapid detection of recurrent SLC12A3 mutations for Gitelman syndrome.
Yan MT et al.
Npj Genomic Medicine, 2021
Novel mutation in the SLC12A3 gene in a Sri Lankan family with Gitelman syndrome & coexistent diabetes: a case report.
Subasinghe CJ et al.
Bmc Nephrology, 2017
Genotype, phenotype, and follow-up in Taiwanese patients with salt-losing tubulopathy associated with SLC12A3 mutation.
Tseng MH et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
Heterozygous mutations of the sodium chloride cotransporter in Chinese children: prevalence and association with blood pressure.
Hsu YJ et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2009
Gitelman's syndrome: towards genotype-phenotype correlations?
Riveira-Munoz E et al.
Pediatric Nephrology (berlin, Germany), 2007
Phenotype and genotype analysis in Chinese patients with Gitelman's syndrome.
Lin SH et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Novel thiazide-sensitive Na-Cl cotransporter mutation in a Chinese patient with Gitelman's syndrome presenting as hypokalaemic paralysis.
Cheng NL et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2003
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