Article
Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected.
Human genetics - 1 Feb 1995
Casals T, Bassas L, Ruiz-Romero J, Chillón M, Giménez J, Ramos M D, Tapia G, Narváez H, Nunes V, Estivill X
Abstract excerpt
Mutations in the cystic fibrosis (CF) conductance transmembrane regulator (CFTR) gene have been detected in patients with CF and in males with infertility attributable to congenital bilateral absence of the vas deferens (CBAVD). Thirty individuals with CBAVD and 10 with congenital unilateral abse...
Topics
- Adolescent
- Adult
- Alleles
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA
- Humans
- Infertility, Male
- Male
- Membrane Proteins
- Middle Aged
- Mutation
- Semen
- Vas Deferens