Article
Mutation analysis of haemophilia B in the Irish population: increased prevalence caused by founder effect.
Haemophilia : the official journal of the World Federation of Hemophilia - 1 Jul 2008
Jenkins P V, Egan H, Keenan C, O'Shea E, Smith O P, Nolan B, White B, O'Donnell J
Abstract excerpt
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 underlying the increased prevalence in the Irish population,...
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