Article
Antithrombin III Budapest: a single amino acid substitution (429Pro to Leu) in a region highly conserved in the serpin family.
Blood - 1 Mar 1992
Olds R J, Lane D A, Caso R, Panico M, Morris H R, Sas G, Dawes J, Thein S L
Abstract excerpt
Antithrombin III (AT) is a major plasma serine protease inhibitor and a member of the serpin family of proteins. We have characterized the molecular and genetic basis of AT Budapest, an inherited variant of AT that is associated with thrombotic disease in affected family members. A single amino a...
Topics
- Amino Acid Sequence
- Antibodies, Monoclonal
- Antithrombin III
- Base Sequence
- DNA
- Heparin
- Homozygote
- Humans
- Leucine
- Male
- Molecular Sequence Data
- Mutation
- Proline
- Thrombin
- Thromboembolism