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Article

[Cystic fibrosis in Asturias: an elevated frequency of the delta F508 mutation].

Medicina clinica - 26 Nov 1994

Coto E, Bousoño C, Menéndez M J, Cue R, Toral J F, Benavides A, Hernando I, Plasencia A, López-Larrea C

Abstract excerpt

BACKGROUND: Cystic fibrosis (CF) is the most common autosomic-recessive inherited disorder. More than 300 different mutations in the CF gene (CFTR) have been described, being delta F508 and G542X the most common in the Spanish population. The frequencies of these mutations vary between the different European populations. METHODS: We have studied the delta F508 and G542X mutations in 20 CF-patients from Asturias....

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Identifiers

PMID: 7808073

Genes

CFTR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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[Cystic fibrosis in Asturias: an elevated frequency of the delta F508 mutation].PMID 7808073Read ↗

[Correlation between phenotype and genotype in a group of patients with cystic fibrosis].Semantic proximity Read ↗

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[Frequency of delta F508 mutation in Venezuelan patients with cystic fibrosis].Semantic proximity Read ↗

[Identification of mutation in the gene cystic fibrosis transmembrane regulator (CFTR) in Chilean patients with cystic fibrosis].Semantic proximity Read ↗

Cystic fibrosis in Argentina: the frequency of the delta F508 mutation.Semantic proximity Read ↗

Spectrum of CFTR mutations in the Middle North of Spain and identification of a novel mutation (1341G-->A). Mutation in brief no. 252. Online.Semantic proximity Read ↗

Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean coastal area.Semantic proximity Read ↗

[Frequency of the main mutation (delta F508) of cystic fibrosis in France: new results about 1656 unrelated families].Semantic proximity Read ↗

Frequency of the deltaF508 mutation in 108 cystic fibrosis patients in Sao Paulo: comparison with reported Brazilian data.Semantic proximity Read ↗

Cystic fibrosis: frequency of delta f508 and g542x mutations in Cordoba, Argentina.Semantic proximity Read ↗

[Molecular genetic analysis of 2 Chilean cystic fibrosis patients and their families].Semantic proximity Read ↗

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