Associated Papers
Novel CLCNKB Mutation in Two Siblings With Classic Bartter Syndrome.
Roodaki N et al.
Case Reports in Genetics, 2025
Clinical, genetic characteristics and outcome of four Chinese patients with Bartter syndrome type 3: Further insight into a genotype-phenotype correlation.
Piao Y et al.
Molecular Genetics and Metabolism Reports, 2024
Clinical Findings and Genetic Analysis of Nine Mexican Families with Bartter Syndrome.
Hernández NEG et al.
Archives of Medical Research, 2023
Bartter Syndrome-Related Variants Distribution: Brazilian Data and Its Comparison with Worldwide Cohorts.
Vaisbich MH et al.
Nephron, 2023
Clinical and Genetic Characterization of Patients with Bartter and Gitelman Syndrome.
Palazzo V et al.
International Journal of Molecular Sciences, 2022
35628451 (PubMed )
Supplement: ijms-23-05641-s001.zip › Palazzo_et_al_Supplementary.pdf
Historical and geographical distribution of the founder mutation c.610G>A; p.Ala204Thr in the CLCNKB gene linked to Bartter syndrome type III in Spain.
Peces R et al.
Clinical Kidney Journal, 2021
A novel mutation associated with Type III Bartter syndrome: A report of five cases.
Li Y et al.
Molecular Medicine Reports, 2019
In silico model of the human ClC-Kb chloride channel: pore mapping, biostructural pathology and drug screening.
Louet M et al.
Scientific Reports, 2017
ClC-K chloride channels: emerging pathophysiology of Bartter syndrome type 3.
Andrini O et al.
American Journal of Physiology. Renal Physiology, 2015
Novel CLCNKB mutations causing Bartter syndrome affect channel surface expression.
Keck M et al.
Human Mutation, 2013
Genomic epidemiology of blood pressure salt sensitivity.
Kelly TN et al.
Journal of Hypertension, 2012
Functional and structural analysis of ClC-K chloride channels involved in renal disease.
Waldegger S et al.
The Journal of Biological Chemistry, 2000
Diseases caused by voltage-gated ion channels.
Fontaine B et al.
Molecular Aspects of Medicine, 1997
Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III.
Simon DB et al.
Nature Genetics, 1997
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