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Article

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

Human molecular genetics - 1 Jun 1998

Schwalbe R A, Bianchi L, Accili E A, Brown A M

Abstract excerpt

The antenatal variant of Bartter's syndrome is an autosomal recessive kidney disease characterized by polyhydramnios, premature delivery, hypokalemic alkalosis and hypercalciuria. It is genetically heterogeneous, having been linked recently to mutations in an ATP-sensitive, renal outer medullary K+channel, ROMK, and earlier to mutations in the Na-K-2Cl co-transporter, NKCC2. We characterized four of the mutations...

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Identifiers

PMID: 9580661
DOI: 10.1093/hmg/7.6.975

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

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Functional consequences of ROMK mutants linked to antenatal Bartter's syndrome and implications for treatment.PMID 9580661Read ↗

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

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

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Genome mining yields putative disease-associated ROMK variants with distinct defects.Semantic proximity Read ↗

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