Article
Insertions/deletions in the antithrombin gene: 3 mutations associated with non-expression.
Thrombosis and haemostasis - 4 May 1992
Daly M, Perry D J, Harper P L, Daly H M, Roques A W, Carrell R W
Abstract excerpt
We have investigated the molecular basis of antithrombin deficiency in 3 individuals, 2 of whom had a proven family history of thromboembolic disease. An approximate 50% reduction in functional and immunologic levels of antithrombin was detected in plasma from the propositi indicating an allelic deficiency of antithrombin. In each case direct sequencing of amplified DNA revealed a novel mutation involving single...
Topics
- Adult
- Alleles
- Antithrombins
- Base Sequence
- Chromosome Deletion
- Cloning, Molecular
- DNA Transposable Elements
- Exons
- Female
- Gene Expression
- Genetic Variation