Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.

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Article

Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.

American journal of human genetics - 1 Jan 1995

Mercier B, Verlingue C, Lissens W, Silber S J, Novelli G, Bonduelle M, Audrézet M P, Férec C

Abstract excerpt

Congenital bilateral absence of the vas deferens (CBAVD) is an important cause of sterility in men. Although the genetic basis of this condition is still unclear, it has been shown recently that some of these patients carry mutations in their cystic fibrosis transmembrane conductance regulator (CFTR) genes. To extend this observation, we have analyzed the entire coding sequence of the CFTR gene in a cohort of 67...

Topics

Alleles
Base Sequence
Cohort Studies
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Epistasis, Genetic
Female
Heterozygote
Humans
Infertility, Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Membrane Proteins

Molecular Sequence Data

Pedigree

Point Mutation

Vas Deferens

Source

Open in PubMed Open full text

Identifiers

PMID: 7529962
PMCID: PMC1801292

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7529962-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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