Article
Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity.
Blood - 15 Mar 1992
Blajchman M A, Fernandez-Rachubinski F, Sheffield W P, Austin R C, Schulman S
Abstract excerpt
Antithrombin-III-Stockholm is a new structural variant of antithrombin-III (AT-III) with normal heparin affinity but defective serine protease inhibitory activity. The proposita, a white female born in 1966, was diagnosed to have developed a pulmonary embolus while on oral contraceptives at age 19. The proposita, as well as her father, were diagnosed to have a type 2 AT-III deficiency as they had normal levels of...
Topics
- Adult
- Antithrombin III
- Base Sequence
- Codon
- Exons
- Female
- Heparin
- Humans
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Serine Endopeptidases