Article
Pleiotropic effects of antithrombin strand 1C substitution mutations.
The Journal of clinical investigation - 1 Dec 1992
Lane D A, Olds R J, Conard J, Boisclair M, Bock S C, Hultin M, Abildgaard U, Ireland H, Thompson E, Sas G
Abstract excerpt
Six different substitution mutations were identified in four different amino acid residues of antithrombin strand 1C and the polypeptide leading into strand 4B (F402S, F402C, F402L, A404T, N405K, and P407T), and are responsible for functional antithrombin deficiency in seven independently ascerta...
Topics
- Adolescent
- Adult
- Amino Acid Sequence
- Antithrombins
- Base Sequence
- Binding Sites
- Consensus Sequence
- Heparin
- Humans
- Male
- Middle Aged
- Models, Molecular
- Molecular Sequence Data
- Mutation
- Oligodeoxyribonucleotides
- Ovalbumin