Haemophilia B in a female caused by skewed inactivation of the normal X-chromosome

Unidad de Coagulopatias Congenitas, Hospital Universitario La Fe. Avd. de Campanar, 21. 46009 Valencia, Spain. espinos@uv.es Hemophilia B (factor IX deficiency) is an X-linked recessive disorder with a prevalence of 1:30,000 male births, which rarely affects females. A missense mutation T38R (6488C&...

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