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

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

BMC nephrology - 5 Aug 2020

Dong Bingzi, Chen Ying, Liu Xinying, Wang Yangang, Wang Fang, Zhao Yuhang, Sun Xiaofang, Zhao Wenjuan

Abstract excerpt

BACKGROUND: Gitelman syndrome is a rare salt-losing renal tubular disorder associated with mutation of SLC12A3 gene, which encodes the Na-Cl co-transporter (NCCT). Gitelman syndrome is characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalciuria, and renin-angiotensin-aldosterone system (RAAS) activation. Different SLC12A3 variants may lead to phenotypic variability and severity. METHODS: In...

Read the complete abstract on PubMed

Topics

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

Share to Bartter Syndrome
Share to China

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gitelman Syndrome

Share to Hypercalciuria

Share to Hypokalemia

Share to Magnesium

Share to Pedigree

Share to Solute Carrier Family 12, Member 3

Source

Open in PubMed Open full text

Identifiers

PMID: 32758178
DOI: 10.1186/s12882-020-01996-2
PMCID: PMC7409507

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of compound mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome exhibiting Bartter syndrome-liked phenotypes.PMID 32758178Read ↗

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

A novel compound heterozygous mutation of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome.Semantic proximity Read ↗

A novel compound heterozygous mutation of SLC12A3 gene in a pedigree with Gitelman syndrome and literature review.Semantic proximity Read ↗

A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome pedigree.Semantic proximity Read ↗

Identification of two novel mutations in SLC12A3 gene in two Chinese pedigrees with Gitelman syndrome and review of literature.Semantic proximity Read ↗

Novel SLC12A3 gene mutations and clinical characteristics in two pedigrees with Gitelman syndrome.Semantic proximity Read ↗

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

Review and Analysis of Two Gitelman Syndrome Pedigrees Complicated with Proteinuria or Hashimoto's Thyroiditis Caused by Compound Heterozygous SLC12A3 Mutations.Semantic proximity Read ↗

The genetic spectrum of Gitelman(-like) syndromesSemantic proximity Read ↗

Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian 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 ↗

Gitelman's syndrome: a pathophysiological and clinical update.Semantic proximity Read ↗

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