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Article

Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2.

Nature genetics - 1 Jun 1996

Simon D B, Karet F E, Hamdan J M, DiPietro A, Sanjad S A, Lifton R P

Abstract excerpt

Inherited hypokalaemic alkalosis with low blood pressure can be divided into two groups-Gitelman's syndrome, featuring hypocalciuria, hypomagnesaemia and milder clinical manifestations, and Bartter's syndrome, featuring hypercalciuria and early presentation with severe volume depletion. Mutations...

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Mutation
Molecular Sequence Data
Base Sequence
Amino Acid Sequence
Cloning, Molecular
Pedigree

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Genetic Markers

Sequence Analysis, DNA

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PMID: 8640224
DOI: 10.1038/ng0696-183

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026. Prepared record publication-8640224-2026-08-31.1. Manifest publication-graph-cohort-2026-08-31.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 31 Aug 2026.

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