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Direct characterization of factor VIII in plasma: detection of a mutation altering a thrombin cleavage site (arginine-372----histidine).

An immunoadsorbent method has been developed for the direct analysis of normal and variant plasma factor VIII. Using this method, the molecular defect responsible for mild hemophilia A has been identified for a patient whose plasma factor VIII activity is 0.05 unit/ml, even though the factor VIII an...

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Detalhes bibliográficos
Publicado no:Proc Natl Acad Sci U S A
Principais autores: Arai, M, Inaba, H, Higuchi, M, Antonarakis, S E, Kazazian, H H, Fujimaki, M, Hoyer, L W
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 1989
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC287434/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2498882/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.86.11.4277
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