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Article

Molecular and clinical analyses of cystic fibrosis in the south of Spain.

Clinical genetics - 1 Oct 1994

Borrego S, Casals T, Dapena J, Fernández E, Giménez J, Cabeza J C, Sánchez J, Antiñolo G

Abstract excerpt

We report molecular and clinical analyses in 71 unrelated patients with cystic fibrosis (CF) from Andalusia (South of Spain). Direct mutation analysis of six mutations of the CFTR gene (delta F508, G542X, R1162X, N1303K, W1182X and 1949de184) was performed. The proportion of CF chromosomes with the above-mentioned mutations was 58.5%. Haplotype analysis was performed with the marker/enzyme pairs XV2C/TaqI and...

Topics

Chi-Square Distribution
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
DNA Mutational Analysis
Genotype
Haplotypes
Humans
Lung Diseases
Membrane Proteins
Molecular Epidemiology
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Pseudomonas Infections

Sequence Deletion

Spain

Source

Identifiers

PMID: 7530610
DOI: 10.1111/j.1399-0004.1994.tb04161.x

Genes

CFTR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7530610-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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