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

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

BMC research notes - 30 Aug 2014

Martins Raisa da Silva, Fonseca Ana Carolina Proença, Acosta Franklyn Enrique Samudio, Folescu Tania Wrobel, Higa Laurinda Yoko Shinzato, Sad Izabela Rocha, Chaves Célia Regina Moutinho de Miranda, Cabello Pedro Hernan, Cabello Giselda Maria Kalil

Abstract excerpt

BACKGROUND: Over 1900 mutations have been identified in the cystic fibrosis conductance transmembrane regulator gene, including single nucleotide substitutions, insertions, and deletions. Unidentified mutations may still lie in introns or in regulatory regions, which are not routinely investigated, or in large genomic deletions, which are not revealed by conventional molecular analysis. The apparent homozygosity...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Cystic Fibrosis Transmembrane Conductance Regulator

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to CFTR gene

Share to Gene Deletion

Share to Homozygote

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 25176415
DOI: 10.1186/1756-0500-7-583
PMCID: PMC4158034

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

Severe phenotype in an apparent homozygosity caused by a large deletion in the CFTR gene: a case report.PMID 25176415Read ↗

Uncommon clinical presentation of cystic fibrosis in a patient homozygous for a rare CFTR mutation: a case report.Semantic proximity Read ↗

Impact of CFTR large deletions and insertions on the clinical and laboratory severity of cystic fibrosis: a serial case report.Semantic proximity Read ↗

A large deletion causes apparent homozygosity for the D1152H mutation in the cystic fibrosis transmembrane regulator (CFTR) gene.Semantic proximity Read ↗

Cystic fibrosis transmembrane conductance regulator mutations at a referral center for cystic fibrosis.Semantic proximity Read ↗

Benign and Deleterious Cystic Fibrosis Transmembrane Conductance Regulator Mutations Identified by Sequencing in Positive Cystic Fibrosis Newborn Screen Children from California.Semantic proximity Read ↗

Clinical presentation of mild cystic fibrosis in a Serbian patient homozygous for the CFTR mutation c.1393-1G>A.Semantic proximity Read ↗

Clinical implications of cystic fibrosis transmembrane conductance regulator mutations.Semantic proximity Read ↗

Pancreatic Insufficiency in a Child with p.Gly542* and c.2657+5G>A Heterozygote CFTR: A Case Report.Semantic proximity Read ↗

Novel de novo large deletion in cystic fibrosis transmembrane conductance regulator gene results in a severe cystic fibrosis phenotype.Semantic proximity Read ↗

Mutation analysis of the CFTR gene in 225 children: identification of five novel severe and seven reported severe mutations.Semantic proximity Read ↗

The pathogenic consequences of a single mutated CFTR gene.Semantic proximity Read ↗

Severe cystic fibrosis in a child homozygous for the G542 nonsense mutation in the CFTR gene.Semantic proximity Read ↗

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