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Article

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

Journal of thrombosis and haemostasis : JTH - 1 Apr 2013

Peretz H, Salomon O, Mor-Cohen R, Usher S, Zucker M, Zivelin A, Seligsohn U

Abstract excerpt

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, type I (c.1716 + 1G>A), which is also prevalent in AJ and to discern a possible founder effect. METHODS: Bleeding...

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PMID: 23332144
DOI: 10.1111/jth.12137

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