Journal of Andrology Proceedings of the Fifth International Conference on the Epididymis
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Table. Frequency of different types of cystic fibrosis transmembrane conductance regulator gene mutations in patients with cystic fibrosis and congenital bilateral absence of the vas deferensa
  Mutation Type
  Count
  Frequency, %
  Missense   643   41.81
  Frameshift   242   15.73
  Splicing   196   12.74
  Nonsense   149   9.69
  In frame in/del   31   2.02
  Large in/del   42   2.73
  Promoter   8   0.52
  Sequence variation
  225
  14.63

  Abbreviation: in/del, insertion/deletion.
  aSource of data: Cystic Fibrosis Genetic Analysis Consortium, 2007.





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