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Article

Recurrent nasal polyps as a monosymptomatic form of cystic fibrosis associated with a novel in-frame deletion (591del18) in the CFTR gene.

Human molecular genetics - 1 Aug 1995

Varon R, Magdorf K, Staab D, Wahn H U, Krawczak M, Sperling K, Reis A

Abstract excerpt

No abstract is available from the source.

Topics

Adolescent
Base Sequence
Codon, Nonsense
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
DNA
Diseases in Twins
Heterozygote
Humans
Male
Molecular Sequence Data
Nasal Polyps
Phenotype
Sequence Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 7581390
DOI: 10.1093/hmg/4.8.1463

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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Recurrent nasal polyps as a monosymptomatic form of cystic fibrosis associated with a novel in-frame deletion (591del18) in the CFTR gene.PMID 7581390Read ↗

CFTR-related disorder in an adult with refractory chronic rhinosinusitis: A missed diagnosis and novel mutation.Semantic proximity Read ↗

The pathogenic consequences of a single mutated CFTR gene.Semantic proximity Read ↗

CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells.Semantic proximity Read ↗

A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype.Semantic proximity Read ↗

Paternal origin of a de novo novel CFTR mutation (L1065R) causing 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 mutation (G1249R) in exon 20 of the CFTR gene.Semantic proximity Read ↗

Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR geneSemantic proximity Read ↗

Is nasal polyposis in cystic fibrosis a direct manifestation of genetic mutation or a complication of chronic infection?Semantic proximity Read ↗

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

Nasal polyposis and cystic fibrosis(CF): review of the literatureSemantic proximity Read ↗

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

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