A novel factor V mutation causes a normal activated protein C ratio despite the presence of a heterozygous F5 R506Q (factor V Leiden) mutation. [electronic resource]
Producer: 20131203Description: 414-7 p. digitalISSN:- 1365-2141
- Activated Protein C Resistance -- genetics
- Adolescent
- Amino Acid Substitution
- Asymptomatic Diseases
- Blood Coagulation Tests
- Enzyme Activation -- genetics
- Factor V -- chemistry
- Female
- Heterozygote
- Humans
- Male
- Molecular Sequence Data
- Mutation, Missense
- Pedigree
- Point Mutation
- Protein C -- analysis
- Protein Stability
- Protein Structure, Tertiary
- Thrombophilia -- genetics
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Publication Type: Letter
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