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

Two CF patients, one homozygous for the 621 + 1G > T splice mutation, the other homozygous for the 1898 + 1G > A splice mutation.

Journal of medical genetics - 1 Feb 1995

Cheadle J P, Meredith A L, Millar-Jones L, Goodchild M C

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Alternative Splicing
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 Homozygote

Share to Membrane Proteins

Share to Mutation

Share to RNA Splicing

Source

Open in PubMed Open full text

Identifiers

PMID: 7539080
DOI: 10.1136/jmg.32.2.158
PMCID: PMC1050244

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

Two CF patients, one homozygous for the 621 + 1G > T splice mutation, the other homozygous for the 1898 + 1G > A splice mutation.PMID 7539080Read ↗

Compound heterozygotes for a CF mutation and the 5T splice variant associated with variable presentations in a French family.Semantic proximity Read ↗

A splicing mutation (1898 + 1G-->T) in the CFTR gene causing cystic fibrosis.Semantic proximity Read ↗

A novel splice mutation, 4006-1G>A, in intron 21 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.Semantic proximity Read ↗

Two novel frame shift mutations of CFTR causing null alleles in a patient with a severe course of CF.Semantic proximity Read ↗

Mild cystic fibrosis in child homozygous for G542 non-sense mutation in CF gene.Semantic proximity Read ↗

Phenotypic heterogeneity in CF sibs compound heterozygous for the G85E and 621 + 1G-->T mutations.Semantic proximity Read ↗

G27X: a novel mutation in exon 2 of the CF gene.Semantic proximity Read ↗

Testing the parents to confirm genotypes of CF patients is highly recommended: report of two cases.Semantic proximity Read ↗

The S549R (T-->G) cystic fibrosis gene mutation.Semantic proximity Read ↗

Splicing mutations in the CFTR gene as therapeutic targets.Semantic proximity Read ↗

Compound heterozygosity for delta F508 and F508C: a cautionary note on the molecular diagnosis of cystic fibrosis.Semantic proximity Read ↗

Identification of two novel mutations in the CFTR gene: 3007 del G and 3271 + 1 G-->A.Semantic proximity Read ↗

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