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

Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry.

Annals of human genetics - 1 Mar 2007

Alonso M J, Heine-Suñer D, Calvo M, Rosell J, Giménez J, Ramos M D, Telleria J J, Palacio A, Estivill X, Casals T

Abstract excerpt

We analyzed 1,954 Spanish cystic fibrosis (CF) alleles in order to define the molecular spectrum of mutations in the CFTR gene in Spanish CF patients. Commercial panels showed a limited detection power, leading to the identification of only 76% of alleles. Two scanning techniques, denaturing gradient gel electrophoresis (DGGE) and single strand conformation polymorphism/hetroduplex (SSCP/HD), were carried out to...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Cystic Fibrosis

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

Share to Cystic Fibrosis Transmembrane Conductance Regulator

Share to DNA Mutational Analysis

Share to Genetic Variation

Share to Latin America

Share to Molecular Epidemiology

Source

Identifiers

PMID: 17331079
DOI: 10.1111/j.1469-1809.2006.00310.x

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

Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry.PMID 17331079Read ↗

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

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 a southern Brazilian population: characteristics of 90% of the alleles.Semantic proximity Read ↗

Spectrum of CFTR mutations in Argentine 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 ↗

Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations.Semantic proximity Read ↗

Characterization of more than 85% of cystic fibrosis alleles in the Greek population, including five novel mutations.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 ↗

Comprehensive cystic fibrosis mutation epidemiology and haplotype characterization in a southern Italian population.Semantic proximity Read ↗

High heterogeneity of CFTR mutations and unexpected low incidence of cystic fibrosis in the Mediterranean France.Semantic proximity Read ↗

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