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

<abstract abstract-type="author-highlights" id="ab0005"> <title id="st0005">Highlights</title> <sec> <p id="sp0015"> <list id="l0005"> <list-item id="u0005"> <label></label> <p id="p0120">We report a case of a 20-year old Dutch woman with a FXI activity level of 30 IU/dL.</p> </list-item> <list-item id="u0010"> <label></label> <p id="p0125">FXI deficiency occurs not only in Ashkenazi Jews, but also in Caucasians.</p> </list-item> <list-item id="u0015"> <label></label> <p id="p0130">We identified a novel c.290G&gt;A mutation in the F11 gene.</p> </list-item> <list-item id="u0020"> <label></label> <p id="p0135">The c.290G&gt;A mutation is associated with FXI deficiency.</p> </list-item> </list> </p> </sec> </abstract>