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 mutations and immotile cilia syndrome.

Clinical genetics - 1 Jun 1995

Liechti-Gallati S, Kraemer R

Abstract excerpt

The immotile cilia syndrome (ICS) presents with autosomal recessive inheritance and is a chronic respiratory disease supposed to be caused by different genetic determinants. The hypothesis that cystic fibrosis (CF) heterozygotes may have a predisposition to develop bronchial or respiratory diseases other than CF prompted us to look for CF mutations in patients with ICS. Five patients, as well as the parents and...

Read the complete abstract on PubMed

Topics

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

Share to Repetitive Sequences, Nucleic Acid
Share to Child
Share to Genes, Recessive

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

Share to Infant

Share to Mutation

Share to Pedigree

Share to Polymerase Chain Reaction

Share to Polymorphism, Genetic

Source

Identifiers

PMID: 7554369
DOI: 10.1111/j.1399-0004.1995.tb03975.x

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 · 8 closest

Cystic fibrosis mutations and immotile cilia syndrome.PMID 7554369Read ↗

A dimorphic 4-bp repeat in the cystic fibrosis gene is in absolute linkage disequilibrium with the delta F508 mutation: implications for prenatal diagnosis and mutation origin.Semantic proximity Read ↗

Cystic fibrosis transmembrane regulator haplotypes in households of patients with cystic fibrosis.Semantic proximity Read ↗

Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers.Semantic proximity Read ↗

Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families.Semantic proximity Read ↗

Molecular screening of partners of cystic fibrosis heterozygotes.Semantic proximity Read ↗

Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population.Semantic proximity Read ↗

A large deletion mutation in the CFTR gene (3120+1Kbdel8.6Kb): a founder mutation in the Palestinian Arabs. Mutation in brief no. 231. Online.Semantic proximity Read ↗

Association of IVS6A GATT polymorphism of CFTR gene with cystic fibrosis: first study in CF and normal Tunisian population.Semantic proximity Read ↗

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