Arg2074Cys missense mutation in the C2 domain of factor V causing moderately severe factor V deficiency: molecular characterization by expression of the recombinant protein.
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E. Santagostino | P. Mannucci | S. Duga | F. Peyvandi | R. Asselta | M. Tenchini | M. Malcovati | M. Montefusco