Article
Three novel mutations in the protein C (PROC) gene causing venous thrombosis.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Apr 1995
Millar D S, Bevan D, Chitolie A, Reynaud J, Chisholm M, Kakkar V V, Cooper D N
Abstract excerpt
Missense mutations, three of them novel (Gly47-->Cys, Arg178-->Pro, Ala259-->Thr), were found in the protein C genes of four patients with inherited protein C deficiency associated with venous thrombosis. Comparison with the phenotypic effects of mutations in the analogous residues of factor IX a...
Topics
- Adolescent
- Female
- Humans
- Mutation
- Phenotype
- Protein C
- Protein C Deficiency
- Thrombophlebitis