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1. A novel c.290G>A mutation in the Factor 11 gene in a Dutch Caucasian family with a Factor XI deficiency.

Author

Mulder, R., Croles, F. N., Lukens, M. V., Meijer, K., and Mulder, A. B.

Subjects
*BLOOD coagulation factors, *GENETIC mutation, *CAUCASIAN race, *DEFICIENCY diseases, *DUTCH people, *HEALTH
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. [ABSTRACT FROM AUTHOR]

Published
2015
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