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Article

Variants in CFTR untranslated regions are associated with congenital bilateral absence of the vas deferens.

Journal of medical genetics - 1 Mar 2011

Lopez Estelle, Viart Victoria, Guittard Caroline, Templin Carine, René Céline, Méchin Déborah, Des Georges Marie, Claustres Mireille, Romey-Chatelain Marie-Catherine, Taulan Magali

Abstract excerpt

BACKGROUND: Congenital bilateral absence of the vas deferens (CBAVD), a frequent cause of obstructive azoospermia, is generated by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Despite extensive testing for point mutations and large rearrangements, a small proportion of alleles still remains unidentified in CBAVD patients. METHODS AND RESULTS: Mutation scanning analysis of...

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Identifiers

PMID: 20972246
DOI: 10.1136/jmg.2010.081851

Genes

CFTR
FOXI1

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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Variants in CFTR untranslated regions are associated with congenital bilateral absence of the vas deferens.PMID 20972246Read ↗

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Novel mutations and polymorphisms in the CFTR gene associated with three subtypes of congenital absence of vas deferens.Semantic proximity Read ↗

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