Article
New insight into the molecular basis of hemophilia A.
International journal of hematology - 1 Feb 2006
Oldenburg Johannes, El-Maarri Osman
Abstract excerpt
Since publication of the sequence of the factor VIII gene (F8) in 1984, a large number of mutations that cause hemophilia A (HA) have been identified. With the technical advances associated with mutation screenings, it is now possible to identify a putative F8 sequence alteration in the great majority of HA patients. The mutation spectrum includes 2 inversion hot spots (intron 1 and intron 22 inversions) mediated...
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