Article
Genotyping of intron 22-related rearrangements of F8 by inverse-shifting PCR in Egyptian hemophilia A patients.
Annals of hematology - 1 May 2011
Abou-Elew Heba, Ahmed Hanan, Raslan Hanan, Abdelwahab Magy, Hammoud Rania, Mokhtar Doha, Arnaout Hanaa
Abstract excerpt
Hemophilia A (HA) is the most common severe bleeding disorder in humans, affecting one in 5,000 male births. In severe HA, intron 22 inversion of F8 is the most prevalent mutation, accounting for 40-50% of all mutations; however, little is known about the disease-causing mutations among Egyptian hemophiliacs. We aimed at genotyping all possible known DNA rearrangements of intron 22 of F8 in Egyptian HA patients....
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