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The intron-22–inverted F8 locus permits factor VIII synthesis: explanation for low inhibitor risk and a role for pharmacogenomics

Intron-22-inversion patients express the entire Factor VIII (FVIII)-amino-acid sequence intracellularly as 2 non-secreted polypeptides and have a positive “intracellular (I)-FVIII-CRM” status. Mutations conferring a positive I-FVIII-CRM status are associated with low inhibitor risk and are pharmacog...

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Detalhes bibliográficos
Publicado no:Blood
Main Authors: Sauna, Zuben E., Lozier, Jay N., Kasper, Carol K., Yanover, Chen, Nichols, Timothy, Howard, Tom E.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4287634/
https://ncbi.nlm.nih.gov/pubmed/25406352
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2013-12-530113
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