Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean coastal area.

Human genetics - 1 Mar 1993

Casals T, Nunes V, Palacio A, Giménez J, Gaona A, Ibáñez N, Morral N, Estivill X

Abstract excerpt

We have determined the frequency of deletion delta F508 and mutation G542X, a nonsense mutation in exon 11 of the cystic fibrosis (CF) gene, in a sample of 400 Spanish CF families. Mutation G542X represents 8% of the total number of CF mutations in Spain, making it the second most common mutation after the delta F508 deletion, which accounts for 48% of CF chromosomes. G542X has a higher frequency in the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Base Sequence
Share to Cystic Fibrosis
Share to Haplotypes

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

Share to Molecular Sequence Data

Share to Mutation

Share to Polymorphism, Genetic

Share to Prevalence

Source

Identifiers

PMID: 8454290
DOI: 10.1007/BF00230225

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean coastal area.PMID 8454290Read ↗

Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry.Semantic proximity Read ↗

Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes.Semantic proximity Read ↗

G542X mutation in Mexican cystic fibrosis patients.Semantic proximity Read ↗

Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium.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 ↗

CFTR mutations in three Latin American countries.Semantic proximity Read ↗

G542X as a probable Phoenician cystic fibrosis mutation.Semantic proximity Read ↗

CFTR mutations in patients from Colombia: implications for local and regional molecular diagnosis programs.Semantic proximity Read ↗

Cystic fibrosis in Chilean patients: Analysis of 36 common CFTR gene mutations.Semantic proximity Read ↗

Common mutations in Cuban cystic fibrosis patients.Semantic proximity Read ↗

Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G-->A, and 3667del4).Semantic proximity Read ↗

High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.