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Article

A founder mutation in the CLCNKB gene causes Bartter syndrome type III in Spain.

Pediatric nephrology (Berlin, Germany) - 1 Jul 2005

Rodríguez-Soriano Juan, Vallo Alfredo, Pérez de Nanclares Gustavo, Bilbao José Ramón, Castaño Luis

Abstract excerpt

The term "Bartter syndrome" encompasses a group of closely related inherited tubulopathies characterized by markedly reduced NaCl transport by the distal nephron. At present, five different genetic variants have been demonstrated. The majority of patients with so-called classic Bartter syndrome carry inactivating mutations of the CLCNKB gene encoding the basolateral ClC-Kb chloride channel (Bartter syndrome type...

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Source

Identifiers

PMID: 15875219
DOI: 10.1007/s00467-005-1867-z

Genes

CLCNKB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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