Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) in Chinese patients with congenital bilateral absence of vas deferens
Journal of Cystic Fibrosis, 06/21/2012
Li H et al. – Most patients with congenital bilateral absence of vas deferens (CBAVD) have mutations in the cystic fibrosis transmembrane conductance (CFTR) gene. A mild genotype with one or two mild or variable mutations was observed in all the patients. These findings improve the understanding of the distribution of CFTR alleles in CBAVD patients and will facilitate the development of more sensitive CFTR mutation screening.