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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...

Topics

Animals
COS Cells
Chlorides
Cystic Fibrosis Transmembrane Conductance Regulator
DNA Mutational Analysis
Exons
Female
Humans
Ion Channel Gating
Mutagenesis, Site-Directed
Mutation
Oocytes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Recombinant Proteins

Transfection

Xenopus laevis

Source

Identifiers

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

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9804160-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Related research

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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 ↗

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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 ↗

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