Congenital factor XIII deficiency in Pakistan: characterization of seven families and identification of four novel mutations

Summary 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...

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Veröffentlicht in:	Haemophilia : the official journal of the World Federation of Hemophilia 2014-07, Vol.20 (4), p.568-574
Hauptverfasser:	Borhany, M., Handrkova, H., Cairo, A., Schroeder, V., Fatima, N., Naz, A., Amanat, S., Shamsi, T., Peyvandi, F., Kohler, H. P.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Base Sequence Child Child, Preschool coagulation factor XIII congenital factor XIII deficiency consanguinity DNA Mutational Analysis F13A gene mutations Factor XIII - chemistry Factor XIII - genetics Factor XIII Deficiency - genetics Female Humans Male Models, Molecular Mutation Pakistan Pedigree Protein Conformation rare bleeding disorders Young Adult
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