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

Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype.

Human genetics - 1 Dec 1995

Desgeorges M, Rodier M, Piot M, Demaille J, Claustres M

Abstract excerpt

We report molecular and clinical analyses in four unrelated patients with cystic fibrosis (CF) with compound heterozygosity for the L206W mutation in the cystic fibrosis transmembrane conductance regulator gene (CFTR). This uncommon missense mutation (frequency less than 1% in a sample of 336 CF chromosomes from Southern France) replaces a leucine by a tryptophan residue in the middle of the third transmembrane...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Child, Preschool
Share to Gene Frequency

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

Share to Haplotypes

Share to Pedigree

Share to Phenotype

Share to Polymerase Chain Reaction

Share to Polymorphism, Genetic

Source

Identifiers

PMID: 8522333
DOI: 10.1007/BF00210305

Genes

CFTR

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

Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype.PMID 8522333Read ↗

L206W mutation of the cystic fibrosis gene, relatively frequent in French Canadians, is associated with atypical presentations of cystic fibrosis.Semantic proximity Read ↗

Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: study of 19 heterozygous and 2 homozygous patients.Semantic proximity Read ↗

Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype.Semantic proximity Read ↗

The c.3140-26A>G Variant of the CFTR Gene in Homozygous State Causes Mild Cystic Fibrosis - Overview of Longitudinal Clinical Data of the Patient Managed in our CF Center and Review of the Literature.Semantic proximity Read ↗

Misprocessing of the CFTR protein leads to mild cystic fibrosis phenotype.Semantic proximity Read ↗

Severe phenotype in an apparent homozygosity caused by a large deletion in the CFTR gene: a case report.Semantic proximity Read ↗

P67L: a cystic fibrosis allele with mild effects found at high frequency in the Scottish population.Semantic proximity Read ↗

Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis.Semantic proximity Read ↗

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

Mild cystic fibrosis mutations in Southern Sweden with special reference to S549I and T338I.Semantic proximity Read ↗

Mild cystic fibrosis in patients with the rare P5L CFTR mutation.Semantic proximity Read ↗

Mild cystic fibrosis disease in three Mexican delta-F508/G551S compound heterozygous siblings.Semantic proximity Read ↗

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