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
Novel compound heterozygous CLCNKB gene mutations (c.1755A>G/c.848_850delTCT) cause classic Bartter syndrome.
Wang C et al.
American Journal of Physiology. Renal Physiology, 2018
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
Select a paper to view details