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 a 6 bp deletion (3195del6) in exon 17a of the cystic fibrosis (CFTR) gene.

Human molecular genetics - 1 Feb 1994

Claustres M, Laussel M, Desgeorges M, Demaille J

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 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 Frameshift Mutation

Share to Membrane Proteins

Share to Sequence Deletion

Source

Identifiers

PMID: 7516234
DOI: 10.1093/hmg/3.2.371

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 a 6 bp deletion (3195del6) in exon 17a of the cystic fibrosis (CFTR) gene.PMID 7516234Read ↗

Identification of a novel mutation, 1087delT, in exon 7 of the CFTR gene in a patient with 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 ↗

A novel stop mutation in exon 18 (W1145X) of the CFTR (ABCC7) gene in an adult CF patient.Semantic proximity Read ↗

A sequence variation in intron 17B of the cystic fibrosis transmembrane conductance regulator gene.Semantic proximity Read ↗

Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.Semantic proximity Read ↗

Identification of a frameshift mutation (557 del T) in exon 4 of the CFTR gene.Semantic proximity Read ↗

Two novel frame-shift mutations: 977 insA in exon 6B, and 4016 insT in exon 21, of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.Semantic proximity Read ↗

Identification of three novel mutations in the CFTR gene, R117P, deltaD192, and 3121-1G-->A in four French patients.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 ↗

A novel missense mutation, S1159F, in exon 19 of the CFTR gene.Semantic proximity Read ↗

Identification of the L927P and delta L1260 mutations in the CFTR gene.Semantic proximity Read ↗

Dinucleotide (CA/GT) repeat polymorphism in intron 17B of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.Semantic proximity Read ↗

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