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-ons...

Topics

Adolescent
Adult
Amiloride
Amino Acid Sequence
Animals
Base Sequence
Blood Pressure
DNA Probes
DNA, Complementary
Diuretics
Female
Gene Expression
Genotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Hypertension

Hypoaldosteronism

Hypokalemia

Male

Source

Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9350583-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

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.