Article
Identification of mutations and polymorphisms in the factor XI genes of an African American family by dideoxyfingerprinting.
Blood - 1 Nov 1998
Martincic D, Zimmerman S A, Ware R E, Sun M F, Whitlock J A, Gailani D
Abstract excerpt
Congenital deficiency of factor XI is a rare condition associated with a mild to moderate bleeding diathesis that is most commonly found in persons of Jewish ancestry. The disorder has been reported sporadically in a number of other ethnic groups, but rarely in the black population. We report on...
Topics
- Adult
- Alleles
- Amino Acid Substitution
- Black People
- Cells, Cultured
- Child
- DNA Fingerprinting
- DNA Mutational Analysis
- Dideoxynucleosides
- Dimerization
- Exons
- Factor XI
- Factor XI Deficiency
- Female
- Genetic Predisposition to Disease
- Hemorrhagic Disorders
- Heterozygote
- Humans