Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na–K–2CI cotransporter NKCC2
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://www.nature.com/articles/ng0696-183.pdf
Reference46 articles.
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3. Hansson, J.H. et al. Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle's syndrome. Nature Genet. 11, 76–82 (1995).
4. Chang, S.S. et al. Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypo-aldosteronism type 1. Nature Genet. 12, 248–253 (1996).
5. Mune, T. et al. Human hypertension caused by mutations in the kidney isozyme of 11β-hydroxysteroid dehydrogenase. Nature Genet. 10, 394–399 (1995).
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