Article
A novel dysfunctional protein C (protein C Padua 2) associated with a thrombotic tendency: substitution of Cys for Arg-1 results in a strongly reduced affinity for binding of Ca++.
British journal of haematology - 1 Nov 1993
Girolami A, Simioni P, Girolami B, Marchiori A, Millar D S, Bignell P, Kakkar V V, Cooper D N
Abstract excerpt
A dysfunctional protein C (PC) molecule (Protein C Padua 2) was found in a 40-year-old man presenting with recurrent deep vein thrombosis/pulmonary embolism and a family history of thrombotic disease. The patient exhibited a normal PC antigen level, normal chromogenic activity (using Protac as PC...
Topics
- Adult
- Aged
- Antigens
- Arginine
- Base Sequence
- Calcium
- Child
- Cysteine
- Humans
- Immunoblotting
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymerase Chain Reaction