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Article

Spectrum of mutations in CRM-positive and CRM-reduced hemophilia A.

Genomics - 1 Feb 1993

McGinniss M J, Kazazian H H, Hoyer L W, Bi L, Inaba H, Antonarakis S E

Abstract excerpt

Hemophilia A is due to the functional deficiency of factor VII (FVIII, gene locus F8C). Although half the patients have no detectable FVIII protein in their plasma, the more rare patients (approximately 5%) have normal levels of a dysfunctional FVIII and are termed cross-reacting material (CRM)-positive. More commonly (approximately 45%), patients have plasma FVIII protein reduced to an extent roughly comparable...

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Identifiers

PMID: 8449505
DOI: 10.1006/geno.1993.1073

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