Mutations in CFTR gene and clinical correlation in Argentine patients with congenital bilateral absence of the vas deferens.

@article{Levy2004MutationsIC,
  title={Mutations in CFTR gene and clinical correlation in Argentine patients with congenital bilateral absence of the vas deferens.},
  author={Estrella Mariel Levy and Pilar Hern{\'a}ndez Granados and Vanesa Yanina Rawe and Santiago P. Brugo Olmedo and Mar{\'i}a Cecilia Luna and Eduardo G. A. Cafferata and Omar Hilario Pivetta},
  journal={Medicina},
  year={2004},
  volume={64 3},
  pages={
          213-8
        }
}
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. Here we identify different mutations of CFTR and the poly-T variant of intron 8 (IVS8) in Argentine patients and analyze sweat test values and clinical characteristic related to Cystic Fibrosis (CF). For counseling purposes the two most frequent mutations in Argentine CF population: deltaF508 and… CONTINUE READING

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