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Article

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

Annales de genetique - 1 Jan 1997

Bienvenu T, Adjiman M, Thiounn N, Jeanpierre M, Hubert D, Lepercoq J, Francoual C, Wolf J, Izard V, Jouannet P, Kaplan J C, Beldjord C

Abstract excerpt

Congenital bilateral absence of the vas deferens is a congenital reproductive disorder that affects about one in 1000 male individuals. Screening of the entire coding and flanking sequences of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in 64 males with CBAVD revealed that in only 23% CBAVD was caused by two CFTR mutations. The 5T allele in one copy, that causes reduced levels of the...

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PMID: 9150843

Genes

CFTR

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Molecular diagnosis of congenital bilateral absence of the vas deferens: analyses of the CFTR gene in 64 French patients.PMID 9150843Read ↗

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

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[Molecular basis of cystic fibrosis and congenital bilateral agenesis of vas deferens].Semantic proximity Read ↗

[Homozygous 5T alleles, clinical presentation and genetic analysis within a family with congenital bilateral absence of the vas deferens].Semantic proximity Read ↗

Identification of the second CFTR mutation in patients with congenital bilateral absence of vas deferens undergoing ART protocolsSemantic proximity Read ↗

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Genetic investigations of CFTR mutations in congenital absence of vas deferens, uterus, and vagina as a cause of infertility.Semantic proximity Read ↗

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