Associated Papers
Genotype-phenotype correlations in children with Gitelman syndrome.
Cho MH et al.
Clinical and Experimental Nephrology, 2024
Machine Learning to Identify Genetic Salt-Losing Tubulopathies in Hypokalemic Patients.
Wan ER et al.
Kidney International Reports, 2023
Cryo-EM structure of the human sodium-chloride cotransporter NCC.
Nan J et al.
Science Advances, 2022
Detecting pathogenic deep intronic variants in Gitelman syndrome.
Rossanti R et al.
American Journal of Medical Genetics. Part A, 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
Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases.
Kondo A et al.
Scientific Reports, 2021
Gitelman syndrome caused by a novel hemiallelic missense mutation in SLC12A3 revealed by 16q12.2q21 microdeletion.
Abe Y et al.
Human Genome Variation, 2020
Wilson Disease Comorbid with Hereditary Sensory Autonomic Neuropathy Type IV and Gitelman Syndrome.
Kim JY et al.
Pediatric Gastroenterology, Hepatology & Nutrition, 2019
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
[A novel mutation of the thiazide-sensitive Na-Cl cotransporter gene in a patient with Gitelman's syndrome].
Okada H et al.
Nihon Naika Gakkai Zasshi. the Journal of the Japanese Society of Internal Medicine, 2010
[Clinical significance of thiazide-sensitive Na-Cl cotransporter gene by mutational analysis].
Yasujima M
Rinsho Byori. the Japanese Journal of Clinical Pathology, 2007
Gitelman's syndrome: towards genotype-phenotype correlations?
Riveira-Munoz E et al.
Pediatric Nephrology (berlin, Germany), 2007
Identification of novel mutations in Na-Cl cotransporter gene in a Korean patient with atypical Gitelman's syndrome.
Yoo TH et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2003