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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...

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Dades bibliogràfiques
Publicat a:J Clin Invest
Autors principals: Vidaud, D, Emmerich, J, Alhenc-Gelas, M, Yvart, J, Fiessinger, J N, Aiach, M
Format: Artigo
Idioma:Inglês
Publicat: American Society for Clinical Investigation 1992
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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