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

Genotype-phenotype analysis of a newly discovered family with Liddle's syndrome.

Journal of hypertension - 1 Oct 1997

Jeunemaitre X, Bassilana F, Persu A, Dumont C, Champigny G, Lazdunski M, Corvol P, Barbry P

Abstract excerpt

OBJECTIVE: To investigate the clinical, biologic, and molecular abnormalities in a family with Liddle's syndrome and analyze the short- and long-term efficacies of amiloride treatment. PATIENTS: The pedigree consisted of one affected mother and four children, of whom three suffered from early-onset and moderate-to-severe hypertension. METHODS: In addition to the biochemical and hormonal measurements, genetic...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Adolescent
Share to Amino Acid Sequence

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA, Complementary

Share to DNA Probes

Share to Gene Expression

Share to Genotype

Share to Hypertension

Source

Identifiers

PMID: 9350583
DOI: 10.1097/00004872-199715100-00007

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genotype-phenotype analysis of a newly discovered family with Liddle's syndrome.PMID 9350583Read ↗

A mutation in the epithelial sodium channel causing Liddle disease increases channel activity in the Xenopus laevis oocyte expression system.Semantic proximity Read ↗

A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity.Semantic proximity Read ↗

A Missense Mutation in the Extracellular Domain of αENaC Causes Liddle SyndromeSemantic proximity Read ↗

Liddle disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene.Semantic proximity Read ↗

Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome.Semantic proximity Read ↗

Liddle's syndrome associated with a point mutation in the extracellular domain of the epithelial sodium channel γ subunitSemantic proximity Read ↗

Liddle Syndrome: Review of the Literature and Description of a New Case.Semantic proximity Read ↗

[Liddle syndrome].Semantic proximity Read ↗

Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel.Semantic proximity Read ↗

Liddle Syndrome Caused by SCNN1B Mutation Presenting With Severe Early-Onset Hypertension and Hypokalemia in an Adolescent: A Case ReportSemantic proximity Read ↗

Genetic analysis of the epithelial sodium channel in Liddleʼs syndromeSemantic proximity Read ↗

Reverse Phenotypes of Patients with Genetically Confirmed Liddle Syndrome.Semantic proximity Read ↗

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