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 a low-incidence population: two major mutations in Finland.

Human genetics - 1 Feb 1994

Kere J, Estivill X, Chillón M, Morral N, Nunes V, Norio R, Savilahti E, de la Chapelle A

Abstract excerpt

The incidence of cystic fibrosis (CF) in Finland, 1:25,000 newborn, is one of the lowest in Caucasian populations. The delta F508 mutation accounts for 18/40 (45%) of CF chromosomes in Finland. Other mutations were therefore sought among the remaining 55%. Twelve out of 40 chromosomes (30%) were found to carry 394delTT, whereas G542X and 3732delA were each detected in one chromosome. Eight mutations remained...

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 Child, Preschool
Share to DNA Mutational Analysis

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

Share to Electrophoresis, Polyacrylamide Gel

Share to Haplotypes

Share to Membrane Proteins

Share to Molecular Sequence Data

Share to Mutation

Source

Identifiers

PMID: 7509311
DOI: 10.1007/BF00210603

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 a low-incidence population: two major mutations in Finland.PMID 7509311Read ↗

Spectrum of mutations in CFTR in Finland: 18 years follow-up study and identification of two novel mutations.Semantic proximity Read ↗

Cystic fibrosis mutation delta F508 in Finland: other mutations predominate.Semantic proximity Read ↗

Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patientsSemantic proximity Read ↗

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

Analysis of 22 cystic fibrosis mutations in 62 patients from the Flanders, Belgium, reveals a high prevalence of Nordic mutation 394delTT.Semantic proximity Read ↗

Geographic distribution and origin of CFTR mutations in Germany.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 ↗

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

A new mutation, 3905insT, accounts for 4.8% of 1173 CF chromosomes in Switzerland and causes a severe phenotype.Semantic proximity Read ↗

A Clinical and Molecular Survey of 62 Cystic Fibrosis Patients from Umbria (Central Italy) Disclosing a High Frequency (2.4%) of the 2184insA Allele: Implications for Screening.Semantic proximity Read ↗

394delTT: a Nordic cystic fibrosis mutation.Semantic proximity Read ↗

Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern France.Semantic proximity Read ↗

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