Article
The protein C omega-loop substitution Asn2Ile is associated with reduced protein C anticoagulant activity.
British journal of haematology - 1 Mar 2009
Preston Roger J S, Morse Colin, Murden Sherina L, Brady Sara Kate, O'Donnell James S, Mumford Andrew D
Abstract excerpt
We report a kindred with heritable protein C (PC) deficiency in which two siblings with severe thrombosis showed a composite type I and IIb PC deficiency phenotype, identified using commercial PC assays (proband: PC antigen 42 u/dl, amidolytic activity 40 u/dl, anticoagulant activity 9 u/dl). The independent PROC nucleotide variations c.669C>A (predictive of Ser181Arg) and c.131C>T (predictive of Asn2Ile)...
Topics
- Adolescent
- Adult
- Aged
- Amino Acid Substitution
- Autoantigens
- Blood Coagulation
- Blood Coagulation Tests
- Child
- Female
- Genotype
- Humans
- Male
- Pedigree
- Phenotype
- Protein C
- Protein C Deficiency
- Purpura Fulminans
- Thrombin