Analysis by mass spectrometry of 100 cystic fibrosis gene mutations in 92 patients with congenital bilateral absence of the vas deferens.

@article{Wang2002AnalysisBM,
  title={Analysis by mass spectrometry of 100 cystic fibrosis gene mutations in 92 patients with congenital bilateral absence of the vas deferens.},
  author={Zhenyuan Wang and Jeff M. Milunsky and Moshe Yamin and Thomas E. Maher and Robert Oates and Aubrey Milunsky},
  journal={Human reproduction},
  year={2002},
  volume={17 8},
  pages={2066-72}
}
BACKGROUND Limited mutation analysis for congenital bilateral absence of the vas deferens (CBAVD) has revealed only a minority of men in whom two distinct mutations were detected. We aimed to determine whether a more extensive mutation analysis would be of benefit in genetic counselling and prenatal diagnosis. METHODS We studied a cohort of 92 men with CBAVD using mass spectrometry and primer oligonucleotide base extension to analyse an approximately hierarchical set of the most common 100 CF… CONTINUE READING