Article
Haemophilia.
Nature reviews. Disease primers - 24 Jun 2021
Berntorp Erik, Fischer Kathelijn, Hart Daniel P, Mancuso Maria Elisa, Stephensen David, Shapiro Amy D, Blanchette Victor
Abstract excerpt
Haemophilia A and B are rare congenital, recessive X-linked disorders caused by lack or deficiency of clotting factor VIII (FVIII) or IX (FIX), respectively. The severity of the disease depends on the reduction of levels of FVIII or FIX, which are determined by the type of the causative mutation in the genes encoding the factors (F8 and F9, respectively). The hallmark clinical characteristic, especially in...
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