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Fig. 1 | BMC Hematology

Fig. 1

From: Identification of a novel mutation in the factor VIII gene causing severe haemophilia A

Fig. 1

a Structure of novel and processed factor VIII protein. Signalling peptide (SP), novel mutation marked by star. b Identification of relevant variant by several filtering steps. c Section of the F8 gene, mRNA and factor VIII amino acid (AA) sequence with affected bases and AA high-lighted showing the resulting deletion in the Factor VIII molecule. d AA position examined for conservation in human, gorilla, mouse, rat, cow, dog, pig, chicken, oppossum, and zebrafish F8 using the publicly available multiple-sequence alignment (

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