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Article

Genetic basis of Bartter syndrome in Korea.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Apr 2012

Lee Beom Hee, Cho Hee Yeon, Lee HyunKyung, Han Kyoung Hee, Kang Hee Gyung, Ha Il Soo, Lee Joo Hoon, Park Young Seo, Shin Jae Il, Lee Dae-Yeol, Kim Su-Yung, Choi Yong, Cheong Hae Il

Abstract excerpt

BACKGROUND: Bartter syndrome (BS) is clinically classified into antenatal or neonatal BS (aBS) and classic BS (cBS) as well as five subtypes based on the underlying mutant gene; SLC12A1 (BS I), KCNJ1 (BS II), CLCNKB (BS III), BSND (BS IV) and CASR (BS V). METHODS: Clinico-genetic features of a nationwide cohort of 26 Korean children with BS were investigated. RESULTS: The clinical diagnosis was aBS in 8 (30.8%),...

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Source

Identifiers

PMID: 21865213
DOI: 10.1093/ndt/gfr475

Genes

CLCNKB
BSND
CASR
KCNJ1

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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