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

A large-scale study of the random variability of a coding sequence: a study on the CFTR gene.

European journal of human genetics : EJHG - 1 Feb 2005

Modiano Guido, Bombieri Cristina, Ciminelli Bianca Maria, Belpinati Francesca, Giorgi Silvia, Georges Marie des, Scotet Virginie, Pompei Fiorenza, Ciccacci Cinzia, Guittard Caroline, Audrézet Marie Pierre, Begnini Angela, Toepfer Michael, Macek Milan, Ferec Claude, Claustres Mireille, Pignatti Pier Franco

Abstract excerpt

Coding single nucleotide substitutions (cSNSs) have been studied on hundreds of genes using small samples (n(g) approximately 100-150 genes). In the present investigation, a large random European population sample (average n(g) approximately 1500) was studied for a single gene, the CFTR (Cystic Fibrosis Transmembrane conductance Regulator). The nonsynonymous (NS) substitutions exhibited, in accordance with...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Cystic Fibrosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cystic Fibrosis Transmembrane Conductance Regulator

Share to Genes, Recessive

Share to Genetic Testing

Share to Models, Genetic

Share to Open Reading Frames

Share to Point Mutation

Source

Identifiers

PMID: 15536480
DOI: 10.1038/sj.ejhg.5201306

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

A large-scale study of the random variability of a coding sequence: a study on the CFTR gene.PMID 15536480Read ↗

Mutation accumulation in H. sapiens F508del CFTR countermands dN/dS type genomic analysis.Semantic proximity Read ↗

The Effect of Synonymous Single-Nucleotide Polymorphisms on an Atypical Cystic Fibrosis Clinical PresentationSemantic proximity Read ↗

A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals.Semantic proximity Read ↗

Conservation of CFTR codon frequency through primates suggests synonymous mutations could have a functional effect.Semantic proximity Read ↗

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.Semantic proximity Read ↗

The true panel of Cystic Fibrosis mutations in the Sicilian populationSemantic proximity Read ↗

Longevity and plasticity of CFTR provide an argument for noncanonical SNP organization in hominid DNA.Semantic proximity Read ↗

Alteration of protein function by a silent polymorphism linked to tRNA abundance.Semantic proximity Read ↗

Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations.Semantic proximity Read ↗

Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution.Semantic proximity Read ↗

CA/GT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover.Semantic proximity Read ↗

Functional analysis of synonymous substitutions predicted to affect splicing of the CFTR gene.Semantic proximity Read ↗

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