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Article

Splicing Characterization of CLCNKB Variants in Four Patients With Type III Bartter Syndrome

21 Feb 2020

Abstract excerpt

Objective Type III Bartter syndrome (BS) is caused by loss-of-function mutations in the gene encoding basolateral chloride channel ClC-Kb (CLCNKB) and is characterized by hypokalemic metabolic alkalosis and hyperreninemic hyperaldosteronism. Here, we investigated the molecular defects in four Chinese children with clinical manifestations of Bartter syndrome. Methods The genomic DNA of the four patients was...

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Cardiac electrophysiology and arrhythmias
Ion channel regulation and function
Ion Transport and Channel Regulation

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 32153641
DOI: 10.3389/fgene.2020.00081

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