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

Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2007

Grangeia Ana, Sá Rosália, Carvalho Filipa, Martin Josiane, Girodon Emmanuelle, Silva Joaquina, Ferráz Luís, Barros Alberto, Sousa Mário

Abstract excerpt

PURPOSE: Approximately 20% of patients with congenital absence of the vas deferens remain without two mutations identified. We applied a strategy of serial screening steps to 45 patients with congenital absence of the vas deferens and characterized cystic fibrosis transmembrane conductance regulator gene mutations in all cases. METHODS: DNA samples of 45 patients with congenital absence of the vas deferens were...

Read the complete abstract on PubMed

Topics

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

Share to Congenital Abnormalities
Share to Cystic Fibrosis Transmembrane Conductance Regulator

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

Share to Mutation

Share to Polymorphism, Genetic

Share to Vas Deferens

Source

Identifiers

PMID: 17413420
DOI: 10.1097/gim.0b013e3180318aaf

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

Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens.PMID 17413420Read ↗

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

Congenital absence of the vas deferens: Cystic fibrosis transmembrane regulatory gene mutations.Semantic proximity Read ↗

Whole Exome Sequencing Identifies a Rare CFTR Mutation in Brothers With Anomalies of the Vas Deferens: A Case Study.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 ↗

Genetic mutation analysis of 22 patients with congenital absence of vas deferens: a single-center study†.Semantic proximity Read ↗

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

Mutations of the cystic fibrosis gene and congenital absence of the vas deferens.Semantic proximity Read ↗

Characterization of cystic fibrosis conductance transmembrane regulator gene mutations and IVS8 poly(T) variants in Portuguese patients with congenital absence of the vas deferens.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 ↗

Comprehensive and rapid genotyping of mutations and haplotypes in congenital bilateral absence of the vas deferens and other cystic fibrosis transmembrane conductance regulator-related disorders.Semantic proximity Read ↗

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

Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferensSemantic proximity Read ↗

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