Article
Simultaneous genotyping of coagulation factor XI type II and type III mutations by multiplex real-time polymerase chain reaction to determine their prevalence in healthy and factor XI-deficient Italians.
Haematologica - 1 May 2008
Zadra Giorgia, Asselta Rosanna, Tenchini Maria Luisa, Castaman Giancarlo, Seligsohn Uri, Mannucci Pier Mannuccio, Duga Stefano
Abstract excerpt
BACKGROUND: Factor XI deficiency is a rare autosomal recessive coagulopathy, which is, however, common among Ashkenazi Jews, in whom the so-called type II (E117X) and type III (F283L) mutations account for 98% of alleles. In non-Jewish populations, a higher level of allelic heterogeneity has been reported. However, the type II mutation was found in individuals from England, Portugal, and Italy, and haplotype...
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