Article
Molecular genotyping of hemophilia A in Saudi Arabia: report of 2 novel mutations.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Sept 2009
Owaidah Tarek M, Alkhail Hala Aba, Zahrani Hazzaa Al, Musa Abdulrahaman Al, Saleh Mahasen Al, Riash Mahmoud Abu, Alodaib Ali, Abu Amero Khalid
Abstract excerpt
Different types of mutations have been reported in patients with hemophilia A. Although about half of all severe factor VIII deficiencies are caused by gene rearrangements (inversions) involving intron 22 in F8, other mutations such as point mutation, large deletions and insertions had been reported. We report the result of the first molecular testing for or F8 mutations from Saudi Arabia. A cohort of 22 men with...
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