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Article

A common ancestral mutation (C128X) occurring in 11 non-Jewish families from the UK with factor XI deficiency.

Journal of thrombosis and haemostasis : JTH - 1 Jun 2004

Bolton-Maggs P H B, Peretz H, Butler R, Mountford R, Keeney S, Zacharski L, Zivelin A, Seligsohn U

Abstract excerpt

Factor XI (FXI) deficiency is a mild bleeding disorder that is particularly common in Ashkenazi Jews, but has been reported in all populations. In Jews, two FXI gene (F11) mutations (a stop codon in exon 5, E117X, type II, and a point mutation in exon 9, F283L, type III) are particularly common, but in other populations a variety of different mutations have been described. In the Basque region of France one...

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Identifiers

PMID: 15140127
DOI: 10.1111/j.1538-7836.2004.00723.x

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