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Type I mutation in the F11gene is a third ancestral mutation which causes factor XI deficiency in Ashkenazi Jews

Authors :
Peretz, H.
Salomon, O.
Mor-cohen, R.
Usher, S.
Zucker, M.
Zivelin, A.
Seligsohn, U.
Source :
Journal of Thrombosis and Haemostasis; April 2013, Vol. 11 Issue: 4 p724-730, 7p
Publication Year :
2013

Abstract

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.

Details

Language :
English
ISSN :
15387933 and 15387836
Volume :
11
Issue :
4
Database :
Supplemental Index
Journal :
Journal of Thrombosis and Haemostasis
Publication Type :
Periodical
Accession number :
ejs62066512
Full Text :
https://doi.org/10.1111/jth.12137