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Article

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

Blood - 8 Jan 2015

Sauna Zuben E, Lozier Jay N, Kasper Carol K, Yanover Chen, Nichols Timothy, Howard Tom E

Abstract excerpt

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 pharmacogenetically relevant because inhibitor risk may be affected by the nature of the therapeutic FVIII-protein (tFVIII),...

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Identifiers

PMID: 25406352
DOI: 10.1182/blood-2013-12-530113
PMCID: PMC4287634

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