Article
Homozygous APC-resistance combined with inherited type I protein S deficiency in a young boy with severe thrombotic disease.
Thrombosis and haemostasis - 1 May 1995
Zöller B, He X, Dahlbäck B
Abstract excerpt
Inherited resistance to activated protein C (APC) is a frequent cause of familial thrombosis. It is associated with a factor V gene point mutation replacing arginine506 in the APC-cleavage site with a glutamine. Thrombotic events are rare during childhood even in patients with homozygous APC-resi...
Topics
- Adult
- Anticoagulants
- Base Sequence
- Child
- Diseases in Twins
- Enzyme Activation
- Factor V
- Factor V Deficiency
- Female
- Genetic Predisposition to Disease
- Homozygote
- Humans
- Male
- Molecular Sequence Data
- Pedigree
- Point Mutation
- Protein C
- Protein S