Article
A molecular genetic study of factor XI deficiency.
Blood - 1 May 1991
Hancock J F, Wieland K, Pugh R E, Martinowitz U, Schulman S, Kakkar V V, Kernoff P B, Cooper D N
Abstract excerpt
Factor XI deficiency is a rare bleeding diathesis found predominantly in Ashkenazi Jewish kindreds. A recent study of six Jewish patients identified three distinct mutations (Types I, II, and III) in the factor XI gene that were sufficient to fully define the genotypes of the patients. We have investigated 63 patients with factor XI deficiency and find overall allele frequencies of 44% for the type II mutation,...
Topics
- Alleles
- Exons
- Factor XI Deficiency
- Gene Frequency
- Genotype
- Hemorrhage
- Humans
- Jews
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Restriction Mapping