Article
Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens.
Human genetics - 1 Apr 1994
Culard J F, Desgeorges M, Costa P, Laussel M, Razakatzara G, Navratil H, Demaille J, Claustres M
Abstract excerpt
Several recent studies have demonstrated the presence of mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene in healthy males with infertility caused by congenital absence of the vas deferens (CBAVD), previously recognized as an idiopathic genetic condition distinct f...
Topics
- Adult
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Epididymis
- Humans
- Male
- Membrane Proteins
- Mutation
- Oligospermia
- Polymorphism, Genetic
- RNA Splicing
- Vas Deferens