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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Pubblicato in:	J Clin Invest
Autori principali:	Vidaud, D, Emmerich, J, Alhenc-Gelas, M, Yvart, J, Fiessinger, J N, Aiach, M
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	American Society for Clinical Investigation 1992
Soggetti:	Research Article
Accesso online:	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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