Associated Papers
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
Classic Bartter Syndrome: A Cause of Severe Hypokalemic Metabolic Alkalosis.
Thakore P et al.
Clinical Pediatrics, 2019
Functional severity of CLCNKB mutations correlates with phenotypes in patients with classic Bartter's syndrome.
Cheng CJ et al.
The Journal of Physiology, 2017
In silico model of the human ClC-Kb chloride channel: pore mapping, biostructural pathology and drug screening.
Louet M et al.
Scientific Reports, 2017
Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome.
García Castaño A et al.
Plos One, 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
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