Molecular pathology of the CFTR locus in male infertility.

  title={Molecular pathology of the CFTR locus in male infertility.},
  author={Mireille Claustres},
  journal={Reproductive biomedicine online},
  volume={10 1},
Congenital bilateral absence of the vas deferens (CBAVD) is a form of infertility with an autosomal recessive genetic background in otherwise healthy males. CBAVD is caused by cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations on both alleles in approximately 80% of cases. Striking CFTR genotypic differences are observed in cystic fibrosis (CF) and in CBAVD. The 5T allele is a CBAVD mutation with incomplete penetrance. Recent evidence confirmed that a second polymorphic… CONTINUE READING
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