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

Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?

BMC medical genetics - 2 Aug 2004

Claustres Mireille, Altiéri Jean-Pierre, Guittard Caroline, Templin Carine, Chevalier-Porst Françoise, Des Georges Marie

Abstract excerpt

BACKGROUND: To contribute further to the classification of three CFTR amino acid changes (p.I148T, p.R74W and p.D1270N) either as CF or CBAVD-causing mutations or as neutral variations. METHODS: The CFTR genes from individuals who carried at least one of these changes were extensively scanned by a well established DGGE assay followed by direct sequencing and familial segregation analysis of mutations and...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Substitution
Share to Cystic Fibrosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cystic Fibrosis Transmembrane Conductance Regulator

Share to Family Health

Share to Haplotypes

Share to Mutagenesis, Insertional

Share to Penetrance

Share to Sequence Deletion

Source

Open in PubMed Open full text

Identifiers

PMID: 15287992
DOI: 10.1186/1471-2350-5-19
PMCID: PMC509248

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?PMID 15287992Read ↗

Reporting Two Novel Mutations in Two Iranian Families with Cystic Fibrosis, Molecular and Bioinformatic AnalysisSemantic proximity Read ↗

[R74W;R1070W;D1270N]: a new complex allele responsible for cystic fibrosis.Semantic proximity Read ↗

Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry.Semantic proximity Read ↗

Comprehensive cystic fibrosis mutation epidemiology and haplotype characterization in a southern Italian population.Semantic proximity Read ↗

Challenging the diagnosis of cystic fibrosis in a patient carrying the 186-8T/C allelic variant in the CF transmembrane conductance regulator gene.Semantic proximity Read ↗

Prenatal diagnosis of cystic fibrosis in a highly heterogeneous population.Semantic proximity Read ↗

Spectrum of CFTR mutations in the Middle North of Spain and identification of a novel mutation (1341G-->A). Mutation in brief no. 252. Online.Semantic proximity Read ↗

The I148T CFTR allele occurs on multiple haplotypes: a complex allele is associated with cystic fibrosis.Semantic proximity Read ↗

N1303K (c.3909C>G) mutation and splicing: implication of its c.[744-33GATT(6); 869+11C>T] complex allele in CFTR exon 7 aberrant splicing.Semantic proximity Read ↗

Effect of the Complex Allele p.[Ile148Thr;Ile1023_Val1024del] 2 in Cystic Fibrosis and Tracing of a Founder Effect in Mexican 3 FamiliesSemantic proximity Read ↗

Complete screening of mutations in the coding sequence of the CFTR gene in a sample of CF patients from Russia: identification of three novel alleles.Semantic proximity Read ↗

CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders.Semantic proximity Read ↗

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