Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Topics Community

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 co...

Topics

Join the communities discussing this publication.

Amino Acid Substitution
DNA
Infant, Newborn
Mutation
Polymorphism, Single-Stranded Conformational
Potassium Channels

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Transcription, Genetic

Source

Identifiers

PMID: 9502574
DOI: 10.1007/s004670050408

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026. Prepared record publication-9502574-2026-08-31.1. Manifest publication-graph-cohort-2026-08-31.1.

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

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

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 ↗

⌁Select a neighboring publication to make it the new centre.