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Article

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

The New England journal of medicine - 1 Jun 1995

Chillón M, Casals T, Mercier B, Bassas L, Lissens W, Silber S, Romey M C, Ruiz-Romero J, Verlingue C, Claustres M

Abstract excerpt

BACKGROUND: Congenital bilateral absence of the vas deferens (CBAVD) is a form of male infertility in which mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been identified. The molecular basis of CBAVD is not completely understood. Although patients with cystic fibrosis have mutations in both copies of the CFTR gene, most patients with CBAVD have mutations in only one copy of...

Topics

Alleles
Base Sequence
Case-Control Studies
Cystic Fibrosis
Female
Genotype
Humans
Infertility, Male
Male
Molecular Sequence Data
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Vas Deferens

Source

Identifiers

PMID: 7739684
DOI: 10.1056/NEJM199506013322204

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7739684-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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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 ↗

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