Single-stranded conformation polymorphism analysis of the CFTR gene in Slovenian cystic fibrosis patients: detection of mutations and sequence variations.

doi:10.1002/humu.1380020408

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

Back to search

Article

Single-stranded conformation polymorphism analysis of the CFTR gene in Slovenian cystic fibrosis patients: detection of mutations and sequence variations.

Human mutation - 1 Jan 1993

Ravnik-Glavac M, Glavac D, Komel R, Dean M

Abstract excerpt

Cystic fibrosis (CF) mutations have been identified in Slovenian CF patients using single-stranded conformation polymorphism (SSCP) analysis. The entire coding region and all of the splice junction sites were screened in 24 patients. By varying the electrophoretic conditions and composition of the gel, 16 different nucleotide changes have been observed in the cystic fibrosis transmembrane conductance regulator...

Topics

Adult
Base Sequence
Child, Preschool
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
DNA
DNA Primers
Female
Genetic Variation
Humans
Introns

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Membrane Proteins

Molecular Sequence Data

Mutation

Polymerase Chain Reaction

Polymorphism, Genetic

Source

Open in PubMed

Identifiers

PMID: 7691352
DOI: 10.1002/humu.1380020408

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7691352-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Single-stranded conformation polymorphism analysis of the CFTR gene in Slovenian cystic fibrosis patients: detection of mutations and sequence variations.PMID 7691352Read ↗

Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients.Semantic proximity Read ↗

Mutation analysis of the CFTR gene in Slovak cystic fibrosis patients by DHPLC and subsequent sequencing: identification of four novel mutations.Semantic proximity Read ↗

Mutational analysis of 30 Slovenian cystic fibrosis patients compared to known Slovenian and European CF mutation spectra.Semantic proximity Read ↗

Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium.Semantic proximity Read ↗

Distribution of 9 common mutations in the CFTR gene in Slovak cystic fibrosis patients.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 ↗

Mutation analysis of the CFTR gene in 225 children: identification of five novel severe and seven reported severe mutations.Semantic proximity Read ↗

Analysis of 30 known cystic fibrosis mutations: 10 mutations account for 27% of non-delta F508 chromosomes in southern France.Semantic proximity Read ↗

[The spectrum of mutations in the CFTR gene in patients with cystic fibrosis in Slovakia].Semantic proximity Read ↗

PCR-SSCP: a method for the molecular analysis of genetic diseases.Semantic proximity Read ↗

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

Comprehensive genetic study of cystic fibrosis in Slovak patients in 25 years of genetic diagnostics.Semantic proximity Read ↗

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