Type I mutation in the F11 gene is a third ancestral mutation which causes factor XI deficiency in Ashkenazi Jews

Summary Background Factor XI (FXI) deficiency is one of the most frequent inherited disorders in Ashkenazi Jews (AJ). Two predominant founder mutations termed type II (p.Glu117Stop) and type III (p.Phe283Leu) account for most cases. Objectives To present clinical aspects of a third FXI mutation, typ...

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Veröffentlicht in:	Journal of thrombosis and haemostasis 2013-04, Vol.11 (4), p.724-730
Hauptverfasser:	Peretz, H., Salomon, O., Mor‐cohen, R., Usher, S., Zucker, M., Zivelin, A., Seligsohn, U.
Format:	Artikel
Sprache:	eng
Schlagworte:	Age Ashkenazi Jews factor XI Factor XI - genetics Factor XI - metabolism factor XI deficiency Factor XI Deficiency - genetics factor XI mutations Female Founder Effect Humans Jews - genetics Male Mutation Pedigree polymorphisms
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