Identification and functional analysis of novel mutations of the CLCNKB gene in Chinese patients with classic Bartter syndrome.

@article{Yu2010IdentificationAF,
  title={Identification and functional analysis of novel mutations of the CLCNKB gene in Chinese patients with classic Bartter syndrome.},
  author={Yongfeng Yu and Chuanchao Xu and Xiaodi Pan and H Ren and W Wang and X Meng and Fangfang Huang and Ning-Hung Chen},
  journal={Clinical genetics},
  year={2010},
  volume={77 2},
  pages={155-62}
}
Mutations in the gene CLCNKB encoding the ClC-Kb chloride channel causes classic Bartter syndrome, which is characterized by hypokalaemic metabolic alkalosis, renal salt loss, hyper-reninaemic hyperaldosteronism and normal blood pressure. We aimed to investigate the underlying mutations in CLCNKB in two Chinese patients with classic Bartter syndrome and then test the effect of the mutations on ClC-Kb chloride channel activity. Mutation analysis of CLCNKB was performed by polymerase chain… CONTINUE READING
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