We have identified a synonymous F8 variation in a severe hemophilia A (HA) patient who developed inhibitors following factor VIII (FVIII) prophylaxis. The unreported c.6273 G > A variant targets the consensus splicing site of exon 21.
Identification and functional characterization of a novel splicing variant in the F8 coagulation gene causing severe hemophilia A
Borroni, EsterSecondo
;Merlin, Simone;Walker, Gillian E;Olgasi, Cristina;Giordano, Mara;Follenzi, Antonia
Ultimo
2020-01-01
Abstract
We have identified a synonymous F8 variation in a severe hemophilia A (HA) patient who developed inhibitors following factor VIII (FVIII) prophylaxis. The unreported c.6273 G > A variant targets the consensus splicing site of exon 21.File in questo prodotto:
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