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Article

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

Human mutation - 1 Jan 2000

Mittre H, Duhamel J F, Abeguile G, Lemaire M, Leymarie P

Abstract excerpt

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

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Source

Identifiers

PMID: 10612849
DOI: 10.1002/(SICI)1098-1004(200001)15:1<121::AID-HUMU34>3.0.CO;2-2

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

A novel splice mutation, 4006-1G>A, in intron 21 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.PMID 10612849Read ↗

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

A novel mutation (G1249R) in exon 20 of the CFTR gene.Semantic proximity Read ↗

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

Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium.Semantic proximity Read ↗

A donor splice site mutation (1811 + 1G-->C) in intron 11 of the CFTR gene identified in a patient of Macedonian origin.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 polymorphism in intron 20 of the CFTR gene.Semantic proximity Read ↗

A novel nonsense mutation, S434X, in exon 9 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.Semantic proximity Read ↗

G1244V: a novel missense mutation in exon 20 of the CFTR gene in a Bulgarian cystic fibrosis patient.Semantic proximity Read ↗

Complex mutation 4114 ATA-->TT in exon 22 of the cystic fibrosis gene CFTR.Semantic proximity Read ↗

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

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