The old and the new in prekallikrein deficiency: historical context and a family from Argentina with PK deficiency due to a new mutation (Arg541Gln) in exon 14 associated with a common polymorphysm (Asn124Ser) in exon 5.

@article{Girolami2014TheOA,
  title={The old and the new in prekallikrein deficiency: historical context and a family from Argentina with PK deficiency due to a new mutation (Arg541Gln) in exon 14 associated with a common polymorphysm (Asn124Ser) in exon 5.},
  author={Antonio Girolami and Jos{\'e} Ramon Vidal and Marcela Sabagh and Nora Gervan and Mar{\'i}a D Parody and E. Peroni and Luisa Sambado and Hugo A Guglielmone},
  journal={Seminars in thrombosis and hemostasis},
  year={2014},
  volume={40 5},
  pages={592-9}
}
Prekallikrein (PK) is one of the clotting factors involved in the contact phase of blood. PK has an important historical role as its deficiency state represents the second instance of a clotting defect without bleeding manifestations, the first one being factor XII deficiency. PK deficiency is a rare clotting disorder. Moreover, only 11 patients have been investigated so far by molecular biology techniques. In this article, we briefly review some of the history around PK and also present some… CONTINUE READING