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

Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens.

Human genetics - 1 Sept 1997

Dörk T, Dworniczak B, Aulehla-Scholz C, Wieczorek D, Böhm I, Mayerova A, Seydewitz H H, Nieschlag E, Meschede D, Horst J, Pander H J, Sperling H, Ratjen F, Passarge E, Schmidtke J, Stuhrmann M

Abstract excerpt

Congenital absence of the vas deferens (CAVD) is a frequent cause for obstructive azoospermia and accounts for 1%-2% of male infertility. A high incidence of mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene has recently been reported in males with CAVD. We have investigated a cohort of 106 German patients with congenital bilateral or unilateral absence of the vas deferens for...

Read the complete abstract on PubMed

Topics

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

Share to Cystic Fibrosis Transmembrane Conductance Regulator
Share to DNA Mutational Analysis

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

Share to CFTR gene

Share to Mutation

Share to Vas Deferens

Source

Identifiers

PMID: 9272157
DOI: 10.1007/s004390050518

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

Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens.PMID 9272157Read ↗

Novel mutations and polymorphisms in the CFTR gene associated with three subtypes of congenital absence of vas deferens.Semantic proximity Read ↗

Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.Semantic proximity Read ↗

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

Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens.Semantic proximity Read ↗

Molecular screening of the CFTR gene in men with anomalies of the vas deferens: identification of three novel mutations.Semantic proximity Read ↗

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

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

Molecular analysis of the IVS8-T splice variant 5T and M470V exon 10 missense polymorphism in Iranian males with congenital bilateral absence of the vas deferens.Semantic proximity Read ↗

Mutation analysis of the cystic fibrosis transmembrane conductance regulator gene in Chinese congenital absence of vas deferens patients.Semantic proximity Read ↗

Genetic investigations of CFTR mutations in congenital absence of vas deferens, uterus, and vagina as a cause of infertility.Semantic proximity Read ↗

Heterogeneous spectrum of mutations in CFTR gene from Indian patients with congenital absence of the vas deferens and their association with cystic fibrosis genetic modifiers.Semantic proximity Read ↗

Expanding the phenotypic and genetic spectrum of Chinese patients with congenital absence of vas deferens bearing CFTR and ADGRG 2 allelesSemantic proximity Read ↗

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