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Article

Genotype-phenotype relationship in 12 patients carrying cystic fibrosis mutation R334W.

Journal of medical genetics - 1 Feb 1997

Antiñolo G, Borrego S, Gili M, Dapena J, Alfageme I, Reina F

Abstract excerpt

We present a phenotype-genotype correlation analysis in 12 patients with cystic fibrosis (CF) carrying the mutation R334W in the CFTR gene. The clinical data obtained for this group were compared with the clinical data of deltaF508/deltaF508 patients. Current age and age at diagnosis were significantly higher in the R334W mutation group (p=0.028 and p=0.0001). We found a lower rate of Pseudomonas aeruginosa...

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

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Source

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Identifiers

PMID: 9039981
DOI: 10.1136/jmg.34.2.89
PMCID: PMC1050858

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.

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