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...
Tallennettuna:
| Julkaisussa: | J Clin Invest |
|---|---|
| Päätekijät: | , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
American Society for Clinical Investigation
1992
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| Aiheet: | |
| Linkit: | 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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