Molecular screening of the CFTR gene in men with anomalies of the vas deferens: identification of three novel mutations.

@article{Jzquel2000MolecularSO,
  title={Molecular screening of the CFTR gene in men with anomalies of the vas deferens: identification of three novel mutations.},
  author={Pascal J{\'e}z{\'e}quel and Christ{\'e}le Dubourg and Dominique Le Le Lannou and Sylvie Odent and Jean Yves Le Gall and Martine Blayau and A Le treut and V{\'e}ronique David},
  journal={Molecular human reproduction},
  year={2000},
  volume={6 12},
  pages={1063-7}
}
Many studies have shown that congenital absence of the vas deferens (CAVD) is a genital cystic fibrosis transmembrane conductance regulator (CFTR)-mediated phenotype, with a broad spectrum of abnormalities causing male infertility. The genotype of these patients includes mutations in the CFTR gene, e.g. DeltaDeltaF508, R117H and the T5 allele; all of which are commonly found in CAVD. In this study we have screened the entirety of CFTR gene in 47 males with anomalies of the vas deferens: 37… CONTINUE READING

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