Discover Community Create You

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

Article

SLC26A3 gene analysis in patients with Bartter and Gitelman syndromes and the clinical characteristics of patients with unidentified mutations.

The Kobe journal of medical sciences - 18 Apr 2013

Ishimori Shingo, Kaito Hiroshi, Matsunoshita Natsuki, Otsubo Hiromi, Hashimoto Fusako, Ninchoji Takeshi, Nozu Kandai, Morisada Naoya, Iijima Kazumoto

Abstract excerpt

We analyzed the SLC26A3 gene in patients with a clinical diagnosis of Bartter and Gitelman syndromes in whom genetic diagnoses could not be determined. We also examined the genetic and clinical characteristics of patients for whom genetic proof could not be obtained. The present study included 10 patients. With regard to genetic characteristics, 1 patient harbored a heterozygous mutation in the SLC12A3 gene...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Bartter Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Chloride-Bicarbonate Antiporters

Share to Gitelman Syndrome

Share to Infant

Share to Sulfate Transporters

Source

Identifiers

PMID: 23756661

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

SLC26A3 gene analysis in patients with Bartter and Gitelman syndromes and the clinical characteristics of patients with unidentified mutations.PMID 23756661Read ↗

Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome.Semantic proximity Read ↗

A case report of Gitelman syndrome resulting from two novel mutations in SLC12A3 gene.Semantic proximity Read ↗

A Case Report: Gitelman Syndrome or Bartter Syndrome?Semantic proximity Read ↗

Novel SLC12A3 mutation in Gitelman syndrome.Semantic proximity Read ↗

Novel mutations of the SLC12A3 gene in patients with Gitelman syndrome.Semantic proximity Read ↗

A novel SLC12A3 gene homozygous mutation of Gitelman syndrome in an Asian pedigree and literature review.Semantic proximity Read ↗

Identification of novel compound mutations of SLC12A3 gene in a Chinese pedigree with Gitelman's syndrome exhibiting Bartter's syndrome-liked phenotypesSemantic proximity Read ↗

Identification of compound mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome exhibiting Bartter syndrome-liked phenotypes.Semantic proximity Read ↗

Novel heterozygous mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome: A care-compliant case report.Semantic proximity Read ↗

Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3.Semantic proximity Read ↗

Understanding Bartter syndrome and Gitelman syndrome.Semantic proximity Read ↗

Clinical and genetic analyses of Chinese patients with Gitelman syndrome.Semantic proximity Read ↗

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