Associated Papers
Bartter Syndrome-Related Variants Distribution: Brazilian Data and Its Comparison with Worldwide Cohorts.
Vaisbich MH et al.
Nephron, 2023
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
34345425 (PubMed )
Supplement: sfab083_supplementary_data.zip › Supplementary_material.docx
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
A labor- and cost-effective non-optical semiconductor (Ion Torrent) next-generation sequencing of the SLC12A3 and CLCNKA/B genes in Gitelman's syndrome patients.
Tavira B et al.
Journal of Human Genetics, 2014
Genetics of type III Bartter syndrome in Spain, proposed diagnostic algorithm.
García Castaño A et al.
Plos One, 2013
Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion.
Estévez R et al.
Nature, 2001
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