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Article

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

Human mutation - 1 Jan 1994

Mercier B, Audrézet M P, Feigelson J, Douchain F, Raguénès O, Verlingue C, Quéré I, Férec C

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Share to Membrane Proteins
Share to RNA Splicing
Share to Child, Preschool
Share to Cystic Fibrosis

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

Share to Cystic Fibrosis Transmembrane Conductance Regulator

Share to DNA Mutational Analysis

Share to Heterozygote

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Source

Identifiers

PMID: 7530553
DOI: 10.1002/humu.1380040309

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.

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Click a neighbor to travelStep 1 · 12 closest

Identification of two novel mutations in the CFTR gene: 3007 del G and 3271 + 1 G-->A.PMID 7530553Read ↗

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

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Rapid detection of 1717-1G----A mutation in CFTR gene by PCR-mediated site-directed mutagenesis.Semantic proximity Read ↗

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

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

Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD).Semantic proximity Read ↗

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