Article
Factor XI deficiency in Ashkenazi Jews in Israel.
The New England journal of medicine - 18 Jul 1991
Asakai R, Chung D W, Davie E W, Seligsohn U
Abstract excerpt
BACKGROUND AND METHODS: Severe factor XI deficiency, which is relatively common among Ashkenazi Jews, is associated with injury-related bleeding of considerable severity. Three point mutations--a splice-junction abnormality (Type I), Glu117----Stop (Type II), and Phe283----Leu (Type III)--have been described in six patients with factor XI deficiency. Clinical correlations with these mutations have not been...
Topics
- Alleles
- Blood Coagulation Tests
- Blood Loss, Surgical
- Factor XI
- Factor XI Deficiency
- Female
- Genetic Carrier Screening
- Genotype
- Hemorrhage
- Heterozygote
- Homozygote
- Humans