Associated Papers
A novel homozygous SLC12A3 mutation causing Gitelman syndrome with co-existent autoimmune thyroiditis: a case report and review of the literature.
Koca O et al.
Cen Case Reports, 2024
Clinicopathological Features of Gitelman Syndrome with Proteinuria and Renal Dysfunction.
Zhang L et al.
Nephron, 2023
Detecting pathogenic deep intronic variants in Gitelman syndrome.
Rossanti R et al.
American Journal of Medical Genetics. Part A, 2022
Novel compound heterozygous mutation of SLC12A3 in Gitelman syndrome co-existent with hyperthyroidism: A case report and literature review.
Qin YZ et al.
World Journal of Clinical Cases, 2022
Frequent SLC12A3 mutations in Chinese Gitelman syndrome patients: structure and function disorder.
Jiang L et al.
Endocrine Connections, 2022
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 heterozygous missense mutation of SLC12A3 gene in Gitelman syndrome: A case report.
Wang CL
World Journal of Clinical Cases, 2019
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
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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