Article
Phenotype-genotype correlations in hemophilia A carriers are consistent with the binary role of the phase between F8 and X-chromosome inactivation.
Journal of thrombosis and haemostasis : JTH - 1 Apr 2015
Radic C P, Rossetti L C, Abelleyro M M, Tetzlaff T, Candela M, Neme D, Sciuccati G, Bonduel M, Medina-Acosta E, Larripa I B, de Tezanos Pinto M, De Brasi C D
Abstract excerpt
BACKGROUND: The recessive X-linked disorder hemophilia A (HA) is rarely expressed in female carriers, most of whom express about half of normal factor VIII activity ( FVIII: C). OBJECTIVE: To propose an integrative assessment model for the binary role of the phase between the mutated F8 and the active X-chromosome (Xa) in FVIII: C in HA carriers. METHODS: We studied 67 females at risk of severe HA, comprising...
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