Article
Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens.
Molecular human reproduction - 1 Sept 1996
De Braekeleer M, Férec C
Abstract excerpt
This paper reviews the relationship between mutations in the cystic fibrosis (CF) gene (CFTR mutations) and congenital bilateral absence of the vas deferens (CBAVD). Two CFTR mutations were identified in 14.5% of the 449 man with CBAVD thus far reported in the literature while one CFTR mutation w...
Topics
- Alleles
- Congenital Abnormalities
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Genetic Counseling
- Genotype
- Humans
- Male
- Mutation
- Phenotype
- Spermatogenesis
- Vas Deferens