Article
Molecular characterization of a type I quantitative factor V deficiency in a thrombosis patient that is "pseudo homozygous" for activated protein C resistance.
Thrombosis and haemostasis - 1 Feb 1997
Guasch J F, Lensen R P, Bertina R M
Abstract excerpt
Resistance to activated protein C (APC), which is associated with the FV Leiden mutation in the large majority of the cases, is the most common genetic risk factor for thrombosis. Several laboratory tests have been developed to detect the APC-resistance phenotype. The result of the APC-resistance...
Topics
- Adult
- DNA Mutational Analysis
- DNA, Complementary
- Exons
- Factor V
- Factor V Deficiency
- Female
- Heterozygote
- Humans
- Male
- Pedigree
- Phenotype
- Point Mutation
- Polymerase Chain Reaction
- Protein C
- Pulmonary Embolism
- RNA Splicing