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

Cystic-fibrosis-like disease unrelated to the cystic fibrosis transmembrane conductance regulator.

Human genetics - 1 May 1998

Mekus F, Ballmann M, Bronsveld I, Dörk T, Bijman J, Tümmler B, Veeze H J

Abstract excerpt

Cystic fibrosis (CF) is considered to be a monogenic disease caused by molecular lesions within the cystic fibrosis transmembrane conductance regulator (CFTR) gene and is diagnosed by elevated sweat electrolytes. We have investigated the clinical manifestations of cystic fibrosis, CFTR genetics and electrophysiology in a sibpair in which the brother is being treated as having CF, whereas his sister is...

Read the complete abstract on PubMed

Topics

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

Share to Cystic Fibrosis
Share to Cystic Fibrosis Transmembrane Conductance Regulator

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

Share to Diagnosis, Differential

Share to DNA Mutational Analysis

Share to Electrophysiology

Share to CFTR gene

Share to Haplotypes

Share to Phenotype

Source

Identifiers

PMID: 9654209
DOI: 10.1007/s004390050744

Genes

CFTR

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

Cystic-fibrosis-like disease unrelated to the cystic fibrosis transmembrane conductance regulator.PMID 9654209Read ↗

ECFS standards of care on CFTR-related disorders: Diagnostic criteria of CFTR dysfunction.Semantic proximity Read ↗

Atypical cystic fibrosis and CFTR-related diseases.Semantic proximity Read ↗

[Molecular genetics principles in cystic fibrosis. An example of genetic illness in pneumology].Semantic proximity Read ↗

Variant cystic fibrosis phenotypes in the absence of CFTR mutations.Semantic proximity Read ↗

Role of cystic fibrosis transmembrane conductance regulator in patients with chronic sinopulmonary disease.Semantic proximity Read ↗

Normal sweat chloride values do not exclude the diagnosis of cystic fibrosis.Semantic proximity Read ↗

Diversity of the basic defect of homozygous CFTR mutation genotypes in humans.Semantic proximity Read ↗

Challenging the diagnosis of cystic fibrosis in a patient carrying the 186-8T/C allelic variant in the CF transmembrane conductance regulator gene.Semantic proximity Read ↗

Extensive sequence analysis of CFTR, SCNN1A, SCNN1B, SCNN1G and SERPINA1 suggests an oligogenic basis for cystic fibrosis-like phenotypes.Semantic proximity Read ↗

Non pathological sweat test, pancreatic insufficiency and Cystic Fibrosis: an unusual case in a child with F508del-duplication of exons 1-3 CFTR genotype.Semantic proximity Read ↗

Cystic fibrosis: genetics and intestinal secretion.Semantic proximity Read ↗

'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations.Semantic proximity Read ↗

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