A novel c.290G>A mutation in the Factor 11 gene in a Dutch Caucasian family with a Factor XI deficiency. Issue 4 (April 2015)

• Record Type: Journal Article
• Authors: Mulder, R.; Croles, F.N.; Lukens, M.V.; Meijer, K.; Mulder, A.B.
• Is Part Of: Thrombosis research. Volume 135:Issue 4(2015)
• Page Start: 767
• Page End: 769
• Publication Date: 2015-04
• Subjects: Thrombosis -- Periodicals; 616.135
• DOI: 10.1016/j.thromres.2015.01.014
• Languages: English
• ISSNs: 0049-3848

Abstract

Highlights: We report a case of a 20-year old Dutch woman with a FXI activity level of 30 IU/dL. FXI deficiency occurs not only in Ashkenazi Jews, but also in Caucasians. We identified a novel c.290G>A mutation in the F11 gene. The c.290G>A mutation is associated with FXI deficiency.