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 molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome.

American journal of human genetics - 1 Nov 1996

Mastroianni N, Bettinelli A, Bianchetti M, Colussi G, De Fusco M, Sereni F, Ballabio A, Casari G

Abstract excerpt

A hereditary defect of the distal tubule accounts for the clinical features of Gitelman syndrome (GS), an autosomal recessive disease characterized by hypokalemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria. Recently, we cloned the cDNA coding for the human Na-Cl thiazide-sensitive co...

Read the complete abstract on PubMed

Topics

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

Share to Calcium
Share to Carrier Proteins
Share to DNA Primers

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Molecular Sequence Data

Share to Mutation

Share to Pedigree

Share to Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 8900229
PMCID: PMC1914834

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-8900229-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome.PMID 8900229Read ↗

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 NCCT gene mutations as a cause of Gitelman's syndrome and a systematic review of mutant and polymorphic NCCT alleles.Semantic proximity Read ↗

Novel Mutations in Thiazide-Sensitive Na-Cl Cotransporter Gene of Patients with Gitelman's SyndromeSemantic proximity Read ↗

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

Two novel mutations of thiazide-sensitive Na-Cl cotrans porter (TSC) gene in two sporadic Japanese patients with Gitelman syndrome.Semantic proximity Read ↗

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

Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain.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 compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome pedigree.Semantic proximity Read ↗

A novel mutation of the thiazide-sensitive sodium chloride cotransporter gene in a Japanese family with Gitelman syndrome.Semantic proximity Read ↗

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

Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome.Semantic proximity Read ↗

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