Article
A Gla domain mutation (Arg 15-->Trp) in the protein C (PROC) gene causing type 2 protein C deficiency and recurrent venous thrombosis.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Apr 1993
Millar D S, Grundy C B, Bignell P, Moffat E H, Martin R, Kakkar V V, Cooper D N
Abstract excerpt
A heterozygous CGG-->TGG (Arg 15-->Trp) substitution was detected in a family with inherited type II protein C deficiency and recurrent venous thrombosis. The mutation, which co-segregates with the deficiency state, occurs in a conserved pentapeptide within the gamma-carboxyglutamic acid (Gla) do...
Topics
- 1-Carboxyglutamic Acid
- Arginine
- Base Sequence
- Conserved Sequence
- Humans
- Molecular Sequence Data
- Mutation
- Pedigree
- Protein C
- Protein C Deficiency
- Recurrence
- Thrombosis
- Tryptophan