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

Novel SLC12A3 gene mutations and clinical characteristics in two pedigrees with Gitelman syndrome.

Clinical endocrinology - 1 Nov 2023

Ying Qiao, Ye Zhinan, Zhang Wei, Pan Yingying, Dai Linxiong, Lin Kaisang, Feng Xiaocheng, Dong Xuehong, He Fei

Abstract excerpt

OBJECTIVE: Gitelman syndrome (GS) is an autosomal recessive tubulopathy resulting from inactivating mutations in the SLC12A3 gene that encodes the thiazide-sensitive sodium-chloride cotransporter (NCC). To date, more than 500 mutations have been identified in the SLC12A3 gene. In this study, we identified two new mutations in the SLC12A3 gene in two Chinese GS pedigrees. DESIGN, PATIENTS AND MEASUREMENTS: The...

Read the complete abstract on PubMed

Topics

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

Share to Diabetes Mellitus, Type 2
Share to Gitelman Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Graves Disease

Share to Mutation

Share to Pedigree

Share to Solute Carrier Family 12, Member 3

Source

Identifiers

PMID: 36562655
DOI: 10.1111/cen.14870

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

Novel SLC12A3 gene mutations and clinical characteristics in two pedigrees with Gitelman syndrome.PMID 36562655Read ↗

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

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 ↗

A NOVEL COMPOUND HETEROZYGOUS VARIANT OF SLC12A3 GENE IN A PEDIGREE WITH GITELMAN SYNDROME CO-EXISTENT WITH THYROID DYSFUNCTION.Semantic proximity Read ↗

Genetic Features of Chinese Patients with Gitelman Syndrome: Sixteen Novel SLC12A3 Mutations Identified in a New Cohort.Semantic proximity Read ↗

Identification of five novel variants in the thiazide-sensitive NaCl co-transporter gene in Chinese patients with Gitelman syndrome.Semantic proximity Read ↗

A novel homozygous mutation in the solute carrier family 12 member 3 gene in a Chinese family 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 fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome.Semantic proximity Read ↗

Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes.Semantic proximity Read ↗

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