Mutation analysis of haemophilia B in the Irish population: increased prevalence caused by founder effect.

@article{Jenkins2008MutationAO,
  title={Mutation analysis of haemophilia B in the Irish population: increased prevalence caused by founder effect.},
  author={Pierre Jenkins and Helen H. Egan and Catriona Keenan and Eadaoin O'Shea and Owen Patrick Smith and Beatrice Nolan and Barry White and James V. O'Donnell},
  journal={Haemophilia : the official journal of the World Federation of Hemophilia},
  year={2008},
  volume={14 4},
  pages={717-22}
}
Haemophilia B generally arises as a result of unique mutations within the F9 gene and occurs with a prevalence of approximately one case per 30 000 males worldwide. The population prevalence of haemophilia B in Ireland at one per 12 500 males is particularly high. To identify the mutations responsible for haemophilia B and to define the biological basis… CONTINUE READING