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

Mutations of the CFTR gene in Turkish patients with congenital bilateral absence of the vas deferens.

Human reproduction (Oxford, England) - 1 May 2004

Dayangaç Didem, Erdem Hayat, Yilmaz Engin, Sahin Ahmet, Sohn Christof, Ozgüç Meral, Dörk Thilo

Abstract excerpt

BACKGROUND: Mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) can cause congenital bilateral absence of the vas deferens (CBAVD) as a primarily genital form of cystic fibrosis. The spectrum and frequency of CFTR mutations in Turkish males with CBAVD is largely unknown. METHODS: We investigated 51 Turkish males who had been diagnosed with CBAVD at the Hacettepe University, Ankara, for the...

Read the complete abstract on PubMed

Topics

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

Share to Cystic Fibrosis
Share to Cystic Fibrosis Transmembrane Conductance Regulator

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

Share to DNA Mutational Analysis

Share to Infertility, Male

Share to Mutation, Missense

Share to RNA Splicing

Share to Turkey

Share to Vas Deferens

Source

Identifiers

PMID: 15070876
DOI: 10.1093/humrep/deh223

Genes

CFTR

Variants

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

Mutations of the CFTR gene in Turkish patients with congenital bilateral absence of the vas deferens.PMID 15070876Read ↗

Mutation studies in the CFTR gene in Asian Indian subjects with congenital bilateral absence of vas deferens: report of two novel mutations and four novel variants.Semantic proximity Read ↗

Molecular screening of CFTR gene in Egyptian patients with congenital bilateral absence of the vas deferens: a preliminary study.Semantic proximity Read ↗

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.Semantic proximity Read ↗

Heterogenous spectrum of CFTR gene mutations in Indian patients with congenital absence of vas deferens.Semantic proximity Read ↗

Cystic fibrosis transmembrane conductance regulator mutations and polymorphisms associated with congenital bilateral absence of vas deferens in a restricted group of patients from North Africa.Semantic proximity Read ↗

Two novel missense and one novel nonsense CFTR mutations in Iranian males with congenital bilateral absence of the vas deferens.Semantic proximity Read ↗

Compound heterozygous mutations in CFTR causing congenital bilateral absence of the vas deferens in a Chinese pedigree.Semantic proximity Read ↗

CFTR Exon 10 deleterious mutations in patients with congenital bilateral absence of vas deferens in a cohort of Pakistani patients.Semantic proximity Read ↗

CFTR mutations in men with congenital bilateral absence of the vas deferens (CBAVD): a systemic review and meta-analysis.Semantic proximity Read ↗

Mutations of the cystic fibrosis transmembrane conductance regulator gene in males with congenital bilateral absence of the vas deferens: Reproductive implications and genetic counseling (Review).Semantic proximity Read ↗

CFTR gene mutations in Japanese individuals with congenital bilateral absence of the vas deferens.Semantic proximity Read ↗

A novel compound heterozygous mutation in CFTR causing congenital bilateral absence of the vas deferens in a Chinese pedigreeSemantic proximity Read ↗

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