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Article

Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens.

Molecular human reproduction - 1 Sept 1996

De Braekeleer M, Férec C

Abstract excerpt

This paper reviews the relationship between mutations in the cystic fibrosis (CF) gene (CFTR mutations) and congenital bilateral absence of the vas deferens (CBAVD). Two CFTR mutations were identified in 14.5% of the 449 man with CBAVD thus far reported in the literature while one CFTR mutation was found in another 48.1%. CBAVD appears to be a heterogeneous genetic condition, many cases being mild forms of cystic...

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Source

Identifiers

PMID: 9239681
DOI: 10.1093/molehr/2.9.669

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.

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Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens.PMID 9239681Read ↗

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Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis.Semantic proximity Read ↗

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

[Molecular basis of cystic fibrosis and congenital bilateral agenesis of vas deferens].Semantic proximity Read ↗

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

The complex relationships between cystic fibrosis and congenital bilateral absence of the vas deferens: clinical, electrophysiological and genetic data.Semantic proximity Read ↗

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Congenital Bilateral Absence of the Vas DeferensSemantic proximity Read ↗

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