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

[Frequency of delta F508 mutation in Venezuelan patients with cystic fibrosis].

Investigacion clinica - 1 Jun 2004

Morales-Machin Alisandra, Borjas-Fajardo Lisbeth, Pineda Lennie, González Sandra, Delgado Wilmer, Zabala Wiliam, Fernández Erika

Abstract excerpt

Cystic Fibrosis (CF) is the most common and severe autosomal recessive disease in Caucasian populations, with an incidence of 1 in 2500 live births. It is characterized by a generalized disturbance in exocrine glands and it is caused by over one thousand mutations at the cystic fibrosis conductance regulator gene (CFTR) mapped at 7q31. AF508 is the most frequent mutation worldwide and it consists in a deletion of...

Read the complete abstract on PubMed

Topics

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

Share to Cystic Fibrosis
Share to Cystic Fibrosis Transmembrane Conductance Regulator

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

Share to CFTR gene

Share to Mutation

Share to Venezuela

Source

Identifiers

PMID: 15211979

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Frequency of delta F508 mutation in Venezuelan patients with cystic fibrosis].PMID 15211979Read ↗

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

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

Frequency of common CFTR gene mutations in Venezuelan patients with cystic fibrosis.Semantic proximity Read ↗

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

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

Mutational spectrum of cystic fibrosis patients from Córdoba province and its zone of influence: implications of molecular diagnosis in Argentina.Semantic proximity Read ↗

[Screening of the delta-F508 mutation and analysis of two Single Nucleotide Polymorphism of the CFTR gene, in a sample of the general population of Valparaíso, Chile].Semantic proximity Read ↗

CFTR gene analysis in Latin American CF patients: heterogeneous origin and distribution of mutations across the continent.Semantic proximity Read ↗

Frequency of delta F508 in a Mexican sample of cystic fibrosis patients.Semantic proximity Read ↗

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

Prevalence of ΔF508 mutation in the cystic fibrosis transmembrane conductance regulator gene among cystic fibrosis patients from a Brazilian referral center.Semantic proximity Read ↗

Analysis Of The Genotypic Profile And Its Relationship With The Clinical Manifestations In People With Cystic Fibrosis: Study From A Registry Of Rare Diseases.Semantic proximity Read ↗

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