The spectrum of CFTR mutations in south-west German cystic fibrosis patients.

doi:10.1007/BF00220076

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

The spectrum of CFTR mutations in south-west German cystic fibrosis patients.

Human genetics - 1 Nov 1992

Lindner M, Wolf A, Moh B, Steinbach P, Kleihauer E, Bartram C R, Kulozik A E

Abstract excerpt

The cystic fibrosis transmembrane conductance regulator (CFTR) gene of 110 cystic fibrosis (CF) patients from the south-west of Germany was screened for 12 different mutations. This analysis resulted in an identification of 79% of all CF mutations and a complete genotype in 66% of the families. The most common mutation found was delta F508 (67%). Another 5 mutations accounted for a further 12.5% (4% G542X; 3%...

Topics

Adolescent
Adult
Base Sequence
Child
Child, Preschool
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
DNA, Single-Stranded
Genetic Carrier Screening
Genotype
Germany

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Homozygote

Humans

Infant

Infant, Newborn

Membrane Proteins

Molecular Sequence Data

Mutation

Source

Open in PubMed

Identifiers

PMID: 1283148
DOI: 10.1007/BF00220076

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1283148-2026-08-29.1. 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

The spectrum of CFTR mutations in south-west German cystic fibrosis patients.PMID 1283148Read ↗

A comprehensive CFTR mutation analysis of German cystic fibrosis patients.Semantic proximity Read ↗

Genotype-phenotype relationship for five CFTR mutations frequently identified in western France.Semantic proximity Read ↗

Spectrum of mutations in the CFTR gene of patients with classical and atypical forms of cystic fibrosis from southwestern Sweden: identification of 12 novel mutations.Semantic proximity Read ↗

Clinical characteristics of rare CFTR mutations causing cystic fibrosis in Polish population.Semantic proximity Read ↗

The CFTR 3849+10kbC->T and 2789+5G->A alleles are associated with a mild CF phenotype.Semantic proximity Read ↗

Spectrum of cystic fibrosis mutations in Syrian patients.Semantic proximity Read ↗

Prevalence of cystic fibrosis mutations in the East German population.Semantic proximity Read ↗

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

CFTR gene: molecular analysis in patients from South Brazil.Semantic proximity Read ↗

Cystic fibrosis mutations: report from the French Registry. The Clinical Centers of the CF.Semantic proximity Read ↗

[Frequency of mutations and genotypes of the CFTR gene in cystic fibrosis adults in Poland].Semantic proximity Read ↗

Geographic distribution and origin of CFTR mutations in Germany.Semantic proximity Read ↗

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