Article
Study of mutations in Jordanian patients with haemophilia A: identification of five novel mutations.
Haemophilia : the official journal of the World Federation of Hemophilia - 1 Jan 2010
Awidi A, Ramahi M, Alhattab D, Mefleh R, Dweiri M, Bsoul N, Magablah A, Arafat E, Barqawi M, Bishtawi M, Haddadeen E, Falah M, Tarawneh B, Swaidan S, Fauori S
Abstract excerpt
Haemophilia A (HA) is an X-linked recessive bleeding disorder caused by mutations in the factor VIII gene (F8), which encodes factor VIII (FVIII) protein, a plasma glycoprotein, that plays an important role in the blood coagulation cascade. In the present study, our aim was to identify F8 gene mutations in HA patients from Jordan. One hundred and seventy-five HA patients from 42 unrelated families were included...
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