Mutations in the Cystic Fibrosis Gene in Patients with Congenital Absence of the Vas Deferens
Open Access
- 1 June 1995
- journal article
- research article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 332 (22), 1475-1480
- https://doi.org/10.1056/nejm199506013322204
Abstract
Congenital bilateral absence of the vas deferens (CBAVD) is a form of male infertility in which mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been identified. The molecular basis of CBAVD is not completely understood. Although patients with cystic fibrosis have mutations in both copies of the CFTR gene, most patients with CBAVD have mutations in only one copy of the gene.Keywords
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