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Article

Molecular screening of the CFTR gene in men with anomalies of the vas deferens: identification of three novel mutations.

Molecular human reproduction - 1 Dec 2000

Jézéquel P, Dubourg C, Le Lannou D, Odent S, Le Gall J Y, Blayau M, Le Treut A, David V

Abstract excerpt

Many studies have shown that congenital absence of the vas deferens (CAVD) is a genital cystic fibrosis transmembrane conductance regulator (CFTR)-mediated phenotype, with a broad spectrum of abnormalities causing male infertility. The genotype of these patients includes mutations in the CFTR gene, e.g. DeltaDeltaF508, R117H and the T5 allele; all of which are commonly found in CAVD. In this study we have...

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Source

Identifiers

PMID: 11101688
DOI: 10.1093/molehr/6.12.1063

Genes

CFTR

Variants

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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