Article
Molecular genetics aspects of factor XI deficiency and Glanzmann thrombasthenia.
Haemostasis - 1 Jan 2000
Seligsohn U, Peretz H
Abstract excerpt
Factor XI deficiency and Glanzmann thrombasthenia are among the hereditary disorders frequently encountered in Israel. Factor XI deficiency is particularly frequent in Ashkenazi (European) Jews with 1:190 individuals affected by the severe deficiency and 8.1% of the population being heterozygotes. So far 4 mutations causing factor XI deficiency have been identified of which the type II (a non-sense mutation) and...
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