Article
Met 358 to Arg mutation of alpha 1-antitrypsin associated with protein C deficiency in a patient with mild bleeding tendency.
The Journal of clinical investigation - 1 May 1992
Vidaud D, Emmerich J, Alhenc-Gelas M, Yvart J, Fiessinger J N, Aiach M
Abstract excerpt
The molecular defect responsible for a dramatic prolongation of all standard clotting tests discovered in a 15-yr-old boy has been identified. Initial investigations revealed the presence of an activated Factor X (Factor Xa) and thrombin inhibitor which copurified with alpha 1-antitrypsin (alpha...
Topics
- Base Sequence
- Blood Coagulation Disorders
- DNA Mutational Analysis
- Factor Xa Inhibitors
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Oligodeoxyribonucleotides
- Oligonucleotide Probes
- Pedigree
- Protein C Deficiency
- Thrombin
- alpha 1-Antitrypsin