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A common NKCC2 mutation in Costa Rican Bartter's syndrome patients: evidence for a founder effect.

Journal of the American Society of Nephrology : JASN - 1 Nov 1997

Kurtz C L, Karolyi L, Seyberth H W, Koch M C, Vargas R, Feldmann D, Vollmer M, Knoers N V, Madrigal G, Guay-Woodford L M

Abstract excerpt

Bartter's syndrome involves an overlapping set of closely related renal tubular disorders that can be subdivided into at least three clinical phenotypes: (1) the hypercalciuric antenatal Bartter variant; (2) the classic Bartter variant; and (3) the hypocalciuric-hypomagnesemic Gitelman variant. R...

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Child, Preschool

Membrane Proteins

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PMID: 9355073
DOI: 10.1681/ASN.V8111706

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026. Prepared record publication-9355073-2026-08-31.1. Manifest publication-graph-cohort-2026-08-31.1.

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

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Click a neighbor to travelStep 1 · 12 closest

A common NKCC2 mutation in Costa Rican Bartter's syndrome patients: evidence for a founder effect.PMID 9355073Read ↗

Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. International Collaborative Study Group for Bartter-like Syndromes.Semantic proximity Read ↗

Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome.Semantic proximity Read ↗

Bartter syndrome in Costa Rica: a description of 20 cases.Semantic proximity Read ↗

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

Clinical Findings and Genetic Analysis of Nine Mexican Families with Bartter Syndrome.Semantic proximity Read ↗

Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK.Semantic proximity Read ↗

Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome.Semantic proximity Read ↗

Bartter's and Gitelman's syndromes: from gene to clinic.Semantic proximity Read ↗

The molecular genetic approach to "Bartter's syndrome".Semantic proximity Read ↗

A founder mutation in the CLCNKB gene causes Bartter syndrome type III in Spain.Semantic proximity Read ↗

Functional consequences of ROMK mutants linked to antenatal Bartter's syndrome and implications for treatment.Semantic proximity Read ↗

Novel SLC12A1 (NKCC2) mutations in two families with Bartter syndrome type 1.Semantic proximity Read ↗

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