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

Identification of 12 novel mutations in the CFTR gene.

Human molecular genetics - 1 Jan 1993

Audrézet M P, Mercier B, Guillermit H, Quéré I, Verlingue C, Rault G, Férec C

Abstract excerpt

Over 200 mutations, besides the deletion delta F508, have been identified in the CFTR gene and are known to cause CF. In order to characterize the molecular defects of non delta F508 CF chromosomes of various French origin, we have combined the techniques of denaturing gradient gel electrophoresis (DGGE) and direct sequencing to screen for mutations in the whole coding sequence of the CFTR gene corresponding to...

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 Exons
Share to Membrane Proteins

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

Share to Molecular Sequence Data

Share to Mutation

Share to Point Mutation

Share to Polymerase Chain Reaction

Share to Polymorphism, Genetic

Source

Identifiers

PMID: 7683952
DOI: 10.1093/hmg/2.1.51

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

Identification of 12 novel mutations in the CFTR gene.PMID 7683952Read ↗

CFTR gene analysis in cystic fibrosis patients: detection of 91% of molecular defects and identification of the novel mutation D979V.Semantic proximity Read ↗

Three point mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradient gel electrophoresis.Semantic proximity Read ↗

Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.Semantic proximity Read ↗

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

A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations.Semantic proximity Read ↗

Identification of six novel mutations in the CFTR gene of patients from Bulgaria by screening the twenty seven exons and exon/intron boundaries using DGGE and direct DNA sequencing.Semantic proximity Read ↗

Detection of more than 94% cystic fibrosis mutations in a sample of Belgian population and identification of four novel mutations.Semantic proximity Read ↗

Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients.Semantic proximity Read ↗

Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes.Semantic proximity Read ↗

Spectrum of CFTR mutations in the Middle North of Spain and identification of a novel mutation (1341G-->A). Mutation in brief no. 252. Online.Semantic proximity Read ↗

Complete screening of mutations in the coding sequence of the CFTR gene in a sample of CF patients from Russia: identification of three novel alleles.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 ↗

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