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

Distribution of CFTR mutations in cystic fibrosis patients of Tunisian origin: identification of two novel mutations.

European journal of human genetics : EJHG - 1 Jan 1996

Messaoud T, Verlingue C, Denamur E, Pascaud O, Quéré I, Fattoum S, Elion J, Férec C

Abstract excerpt

Cystic fibrosis (CF), the most common lethal genetic disease in the Caucasian population, is caused by mutations in the CF transmembrane conductance regulator gene (CFTR). More than 500 molecular defects have been reported to date. The distribution of these mutations is both heterogeneous and population related. In Mediterranean populations, 20-30% of CF alleles remain unidentified. We have studied a sample of 39...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Base Sequence

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

Share to DNA Primers

Share to Electrophoresis, Polyacrylamide Gel

Share to Genotype

Share to Molecular Sequence Data

Share to Mutation

Share to Polymerase Chain Reaction

Source

Identifiers

PMID: 8800923
DOI: 10.1159/000472165

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

Distribution of CFTR mutations in cystic fibrosis patients of Tunisian origin: identification of two novel mutations.PMID 8800923Read ↗

CFTR mutations in the Algerian population.Semantic proximity Read ↗

[Molecular epidemiology of cystic fibrosis in Tunisia].Semantic proximity Read ↗

Cystic fibrosis transmembrane conductance regulator mutation spectrum in patients with cystic fibrosis in Tunisia.Semantic proximity Read ↗

High heterogeneity of CFTR mutations and unexpected low incidence of cystic fibrosis in the Mediterranean France.Semantic proximity Read ↗

Contribution of common CFTR variants (M470V, T854, and Q1463) to cystic fibrosis in Tunisia: haplotype analysis.Semantic proximity Read ↗

[Cystic fibrosis mutations in the Tunisian population].Semantic proximity Read ↗

Analysis of the complete coding region of the CFTR gene in ten Algerian cystic fibrosis families.Semantic proximity Read ↗

Characterization of more than 85% of cystic fibrosis alleles in the Greek population, including five novel mutations.Semantic proximity Read ↗

[CFTR gene sequencing in a group of Chilean patients with cystic fibrosis].Semantic proximity Read ↗

Detection of CFTR mutations using PCR/ARMS in a sample of Algerian population.Semantic proximity Read ↗

Spectrum of CFTR mutations on Réunion Island: impact on neonatal screening.Semantic proximity Read ↗

Mutations of the CFTR gene and novel variants in Turkish patients with cystic fibrosis: 24-years experience.Semantic proximity Read ↗

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