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Article

Study of mutant and polyvariant mutant CFTR genes in patients with congenital absence of the vas deferens.

Pflugers Archiv : European journal of physiology - 1 Jan 2000

Ravnik-Glavac M, Dean M, Glavac D

Abstract excerpt

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. Cystic fibrosis patients have mutations in both alleles of the gene while most CBAVD patients have mutations in only one allele. Frequently, the second CFTR allele is not mutant but polyvariant. We have studied CFTR...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10653141

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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