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 mutations in Costa Rica.

Human biology - 1 Apr 2003

Venegas Patricia B, Novak Jessica M, Oscar Castro A, Sánchez Félix L, Gutiérrez Inés G, Rivera Julio M, Salas Jorge P, Montero Jenny F, Grody Wayne W

Abstract excerpt

Using polymerase chain reaction amplification of DNA in dried blood spots and a nonisotopic reverse dot blot hybridization method, we performed molecular genetic analysis for 6 and for 16 of the most common mutations of the cystic fibrosis transmembrane conductance regulator gene (CFTR) in 24 unr...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Costa Rica
Share to Cystic Fibrosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cystic Fibrosis Transmembrane Conductance Regulator

Share to DNA Mutational Analysis

Share to Gene Frequency

Share to Infant

Share to Polymerase Chain Reaction

Source

Identifiers

PMID: 12943157
DOI: 10.1353/hub.2003.0039

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12943157-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cystic fibrosis mutations in Costa Rica.PMID 12943157Read ↗

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

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

Geographic heterogeneity of 4 common worldwide cystic fibrosis non-DF508 mutations in Brazil.Semantic proximity Read ↗

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

Low frequency of the deltaAF508 mutation of the CFTR gene in a highly admixed population in Bahia, Brazil.Semantic proximity Read ↗

Cystic fibrosis: low frequency of DF508 mutation in 2 population samples from Rio de Janeiro, Brazil.Semantic proximity Read ↗

Analysis of 16 cystic fibrosis mutations in Mexican patients.Semantic proximity Read ↗

Frequencies of cystic fibrosis mutations in the Maine population: high proportion of unknown alleles in individuals of French-Canadian ancestry.Semantic proximity Read ↗

Prevalence of deltaF508, G551D, G542X, and R553X mutations among cystic fibrosis patients in the North of Brazil.Semantic proximity Read ↗

High allelic heterogeneity between Afro-Brazilians and Euro-Brazilians impacts cystic fibrosis genetic testing.Semantic proximity Read ↗

Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians.Semantic proximity Read ↗

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