Met 358 to Arg mutation of alpha 1-antitrypsin associated with protein C deficiency in a patient with mild bleeding tendency.
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 1-A...
Guardat en:
| Publicat a: | J Clin Invest |
|---|---|
| Autors principals: | , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
American Society for Clinical Investigation
1992
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC443026/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1569192/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI115746 |
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