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: a new mutation in the Lebanese population.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Sept 2008

Farra Chantal, Medawar Rita, Mroueh Salman, Souaid Myrna, Cabet Faiza, Awwad Johnny

Abstract excerpt

BACKGROUND: Cystic fibrosis is the most common autosomal recessive disorder in Caucasians. Little has been reported on its occurrence in Arab and Lebanese populations where mutation distribution seems to differ from that of Europeans. We report on the occurrence of a frameshift mutation 4016insG in two Lebanese Muslim siblings, products of consanguineous parents. This mutation generates a stop codon instead of...

Read the complete abstract on PubMed

Topics

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

Share to Infant
Share to Lebanon
Share to Cystic Fibrosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cystic Fibrosis Transmembrane Conductance Regulator

Share to CFTR gene

Share to Mutation

Source

Identifiers

PMID: 18455968
DOI: 10.1016/j.jcf.2008.03.003

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cystic fibrosis: a new mutation in the Lebanese population.PMID 18455968Read ↗

Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis.Semantic proximity Read ↗

Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab populations.Semantic proximity Read ↗

CFTR mutational screening by next-generation sequencing reveals novel variants and a high carrier rate in a Middle Eastern population.Semantic proximity Read ↗

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

[3120+1kbdel8.6kb]+[p.N1303K] genotype in an Emirati cystic fibrosis patient: indication of a founder mutation in Palestinian Arabs.Semantic proximity Read ↗

Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities.Semantic proximity Read ↗

3120+1 G-->A: a rare variant in Emirati CF patients.Semantic proximity Read ↗

CFTR mutation in an Arab patient: clinical and functional features of 875+1G-->A/875+1G-->A genotype.Semantic proximity Read ↗

Cystic fibrosis mutations in Israeli Arab patients.Semantic proximity Read ↗

Identification of cystic fibrosis mutations in the United Arab Emirates. Mutations in brief no. 133. Online.Semantic proximity Read ↗

Mutational spectrum of cystic fibrosis in the Lebanese populationSemantic proximity Read ↗

First report of cystic fibrosis mutations in Libyan cystic fibrosis patients.Semantic proximity Read ↗

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