Article
Type II protein C deficiency: identification and molecular modelling of two natural mutants with low anticoagulant and normal amidolytic activity.
British journal of haematology - 1 Feb 2000
Faioni E M, Hermida J, Rovida E, Razzari C, Asti D, Zeinali S, Mannucci P M
Abstract excerpt
Two mutations in exons 3 and 9 of the protein C gene were identified by amplification and sequencing from symptomatic probands referred for venous thromboembolism and thrombophilia screening. The phenotype associated with the mutations is a type II protein C deficiency with normal amidolytic activity. In one family, the mutation in exon 3 (G3545-->A), which predicts an R9 to H substitution in the Gla domain, was...
Topics
- Blotting, Western
- Exons
- Factor VIIa
- Female
- Humans
- Male
- Phenotype
- Point Mutation
- Protein C
- Protein C Deficiency
- Sequence Analysis, Protein