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Article

Two novel mutations of the gene for Kir 1.1 (ROMK) in neonatal Bartter syndrome.

Pediatric nephrology (Berlin, Germany) - 1 Jan 1998

Vollmer M, Koehrer M, Topaloglu R, Strahm B, Omran H, Hildebrandt F

Abstract excerpt

Bartter syndrome, an autosomal recessive renal tubular disorder, is associated with hypokalemic metabolic alkalosis with high renin and aldosterone plasma concentrations with low or normal blood pressure and renal salt loss. Two genes, the gene encoding the furosemide-sensitive apical Na-K-2Cl cotransporter (NKCC2) and the gene encoding the luminal inwardly-rectifying potassium channel Kir 1.1 (ROMK), have been...

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Share to Amino Acid Substitution
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Polymorphism, Single-Stranded Conformational

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Source

Identifiers

PMID: 9502574
DOI: 10.1007/s004670050408

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Two novel mutations of the gene for Kir 1.1 (ROMK) in neonatal Bartter syndrome.PMID 9502574Read ↗

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 ↗

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

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

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

Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter With Neonatal Primary Hyperparathyroidism.Semantic proximity Read ↗

[Neonatal Bartter disease diagnosed with the detection of a mutation of the KCNJ1 gene which codifies the synthesis of the renal ROMK1 potassium channel].Semantic proximity Read ↗

Mutations in the ROMK gene in antenatal Bartter syndrome are associated with impaired K+ channel function.Semantic proximity Read ↗

[Bartter's syndrome].Semantic proximity Read ↗

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

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

Expanding the spectrum of genetic mutations in antenatal Bartter syndrome type II.Semantic proximity Read ↗

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

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