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Factor VIII inhibitor development in Egyptian hemophilia patients: does intron 22 inversion mutation play a role?

Ital J Pediatr · 2020 · PMC7488666 · PMID 32928254

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Severely affected patients displayed significantly higher frequency (33%) for the Inv22 mutation as compared with moderately affected peers (6%) as presented in Table 1 . FVIII inhibitors were detected much more frequently in severe hemophilia patients (16/72, 22%) as compared to moderately affected peers (5/48, 10%), but the difference in proportion did not reach statistical significance as shown in Table 2 .

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