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Article

Testicular CFTR splice variants in patients with congenital absence of the vas deferens.

Human molecular genetics - 1 Oct 1998

Larriba S, Bassas L, Gimenez J, Ramos M D, Segura A, Nunes V, Estivill X, Casals T

Abstract excerpt

The involvement of the five thymidine (5T) variant in intron 8 of the cystic fibrosis membrane regulator (CFTR) gene in congenital bilateral absence of the vas deferens (CBAVD) phenotype has been extensively demonstrated. This variant leads to alternative splicing of the CFTR gene which results i...

Topics

Alternative Splicing
Cystic Fibrosis Transmembrane Conductance Regulator
Genetic Variation
Humans
Male
Mutation
Spermatogenesis
Testis
Vas Deferens

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 9736775
DOI: 10.1093/hmg/7.11.1739

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9736775-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Testicular CFTR splice variants in patients with congenital absence of the vas deferens.PMID 9736775Read ↗

Molecular analysis of the IVS8-T splice variant 5T and M470V exon 10 missense polymorphism in Iranian males with congenital bilateral absence of the vas deferens.Semantic proximity Read ↗

Novel cause of hereditary obstructive azoospermia: a T2 allele in the CFTR gene.Semantic proximity Read ↗

A T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD).Semantic proximity Read ↗

Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens.Semantic proximity Read ↗

Characterization of cystic fibrosis conductance transmembrane regulator gene mutations and IVS8 poly(T) variants in Portuguese patients with congenital absence of the vas deferens.Semantic proximity Read ↗

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

Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens.Semantic proximity Read ↗

Molecular study of (TG)m(T)n polymorphisms in Iranian males with congenital bilateral absence of the vas deferens.Semantic proximity Read ↗

Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.Semantic proximity Read ↗

The CFTR M470V, intron 8 poly-T, and 8 TG-repeats detection in Chinese males with congenital bilateral absence of the vas deferens.Semantic proximity Read ↗

Congenital absence of vas deferens and cystic fibrosis.Semantic proximity Read ↗

Molecular diagnosis of congenital bilateral absence of the vas deferens: analyses of the CFTR gene in 64 French patients.Semantic proximity Read ↗

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