Article
Congenital factor XIII deficiency in Pakistan: characterization of seven families and identification of four novel mutations.
Haemophilia : the official journal of the World Federation of Hemophilia - 1 Jul 2014
Borhany M, Handrkova H, Cairo A, Schroeder V, Fatima N, Naz A, Amanat S, Shamsi T, Peyvandi F, Kohler H P
Abstract excerpt
Deficiency of coagulation factor XIII (FXIII) belongs to the rare bleeding disorders and its incidence is higher in populations with consanguineous marriages. The aims of this study were to characterize patients and relatives from seven families with suspected FXIII deficiency from Pakistan and to identify the underlying mutations. As a first indicator of FXIII deficiency, a 5M urea clot solubility test was used....
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