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

Mutation heterogeneity of cystic fibrosis in France: screening by denaturing gradient gel electrophoresis using psoralen-modified oligonucleotide.

Human mutation - 1 Jan 1995

Bienvenu T, Cazeneuve C, Kaplan J C, Beldjord C

Abstract excerpt

In order to establish counseling guidelines and aid carrier risk assessment, we sought to establish the frequencies of cystic fibrosis (CF) mutations that are present in CF families living in the Ile de France region, a region notable for its ethnic heterogeneity. We studied 470 CF chromosomes in which we identified more than 90% of the CF mutations. We systematically screened 21 exons and the adjacent sequences...

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 Cystic Fibrosis
Share to Cystic Fibrosis Transmembrane Conductance Regulator

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

Share to Electrophoresis, Polyacrylamide Gel

Share to Molecular Sequence Data

Share to Mutation

Share to Oligodeoxyribonucleotides

Share to Polymerase Chain Reaction

Source

Identifiers

PMID: 7550227
DOI: 10.1002/humu.1380060106

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

Mutation heterogeneity of cystic fibrosis in France: screening by denaturing gradient gel electrophoresis using psoralen-modified oligonucleotide.PMID 7550227Read ↗

Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes.Semantic proximity Read ↗

Cystic fibrosis: molecular diagnosis, population screening, and public policy.Semantic proximity Read ↗

Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern France.Semantic proximity Read ↗

Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients.Semantic proximity Read ↗

Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry.Semantic proximity Read ↗

High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes.Semantic proximity Read ↗

Cystic fibrosis carrier testing in an ethnically diverse US population.Semantic proximity Read ↗

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

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

Complete identification of cystic fibrosis transmembrane conductance regulator mutations in the CF population of Saguenay Lac-Saint-Jean (Quebec, Canada).Semantic proximity Read ↗

Prenatal diagnosis of cystic fibrosis in a highly heterogeneous population.Semantic proximity Read ↗

Prenatal diagnosis of cystic fibrosis in different European populations: application of denaturing gradient gel electrophoresis.Semantic proximity Read ↗

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