Novel missense mutations of WNK1 in patients with hypokalemic salt-losing tubulopathies
Author:
Affiliation:
1. Department of Nephrology, Xinhua Hospital, School of Medicine; Shanghai Jiao Tong University; Shanghai; China
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference26 articles.
1. Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies;Peters;Am J Med,2002
2. Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects;Seyberth;Pediatr Nephrol,2011
3. Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III;Simon;Nat Genet,1997
4. Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter;Simon;Nat Genet,1996
5. The WNKs: atypical protein kinases with pleiotropic actions;McCormick;Physiol Rev,2011
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2. A Gain-of-Function Mutation on BCKDK Gene and Its Possible Pathogenic Role in Branched-Chain Amino Acid Metabolism;Genes;2022-01-26
3. A novel mutation in exon 9 of Cullin 3 gene contributes to aberrant splicing in pseudohypoaldosteronism type II;FEBS Open Bio;2018-02-10
4. Bartter's and Gitelman's syndrome;Current Opinion in Pediatrics;2017-04
5. Molecular Genetics of Gitelman Syndrome;eLS;2014-12-09
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