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

Characterization of mutations located in exon 18 of the CFTR gene.

FEBS letters - 16 Oct 1998

Vankeerberghen A, Wei L, Teng H, Jaspers M, Cassiman J J, Nilius B, Cuppens H

Abstract excerpt

In order to get a better insight into the function of amino acid residues located in the second transmembrane domain of the cystic fibrosis transmembrane conductance regulator (CFTR) protein, all exon 18 mutations found in cystic fibrosis (CF) patients were characterized at the protein and at the electrophysiological level. Of the different mutations present in transmembrane helix 12 (M1137V, M1137R, I11139V and...

Read the complete abstract on PubMed

Topics

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

Share to Cystic Fibrosis Transmembrane Conductance Regulator
Share to DNA Mutational Analysis

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

Share to Mutagenesis, Site-Directed

Share to Mutation

Share to Oocytes

Share to Recombinant Proteins

Share to Transfection

Source

Identifiers

PMID: 9804160
DOI: 10.1016/s0014-5793(98)01042-4

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 · 11 closest

Characterization of mutations located in exon 18 of the CFTR gene.PMID 9804160Read ↗

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 ↗

Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin.Semantic proximity Read ↗

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

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

Study of 12 mutations in Turkish cystic fibrosis patients.Semantic proximity Read ↗

Disease-associated mutations in the fourth cytoplasmic loop of cystic fibrosis transmembrane conductance regulator compromise biosynthetic processing and chloride channel activity.Semantic proximity Read ↗

Four novel cystic fibrosis mutations in splice junction sequences affecting the CFTR nucleotide binding folds.Semantic proximity Read ↗

L138ins Variant of the CFTR Gene in Russian Infertile Men.Semantic proximity Read ↗

Disease-associated mutations in cytoplasmic loops 1 and 2 of cystic fibrosis transmembrane conductance regulator impede processing or opening of the channel.Semantic proximity Read ↗

Identification of a nonframeshift 84-bp deletion in exon 13 of the cystic fibrosis gene.Semantic proximity Read ↗

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