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
Allele-specific RT-PCR for the rapid detection of recurrent SLC12A3 mutations for Gitelman syndrome.
Yan MT et al.
Npj Genomic Medicine, 2021
Hypokalemia, hypomagnesemia, hypocalciuria, and recurrent tetany: Gitelman syndrome in a Chinese pedigree and literature review.
Xia MF et al.
Clinical Case Reports, 2017
A novel homozygous mutation in the solute carrier family 12 member 3 gene in a Chinese family with Gitelman syndrome.
Zhang Y et al.
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2016
Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome.
Lee JW et al.
Journal of Korean Medical Science, 2016
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
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