Analysis of the novel factor X gene mutation Glu51Lys in two families with factor X-Riyadh anomaly

Summary Two families with 'factor X(FX)-Riyadh' have been identified (one of them related to the originally reported family). Affected members of both families exhibit prolongation in prothrombin time (PT) with normal partial thromboplastin time (PTT) and low assay levels of FX, when measu...

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Veröffentlicht in:	Thrombosis and haemostasis 2007-04, Vol.97 (4), p.542-545
Hauptverfasser:	Akram Al-Hilali, Karin Wulff, Hikmat Abdel-Razeq, Khalida Abu Saud, Fateh Al-Gaili, Falko H. Herrmann
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Aged Blood Coagulation, Fibrinolysis and Cellular Haemostasis Child DNA Mutational Analysis exon 4 Exons Factor X - genetics Factor X - metabolism Factor X Deficiency - blood Factor X Deficiency - genetics factor X-Riyadh Female Genotype Glutamic Acid Humans Lysine Male Middle Aged mutation Mutation, Missense Partial Thromboplastin Time Pedigree Phenotype Prothrombin Time Saudi Arabia
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