VII:C and VII:Ag results are expressed as percentage of a normal plasma pool. PCR amplification, cloning, and sequencing (as detailed in Materials and Methods) were used to identify the −94 C to G mutation, the −122 T to C transition, and the −323 decanucleotide insert in both the patient and his parents, as well as the Arg353Gln polymorphism in the patient. The −323 insert and the Arg353Gln polymorphism were also identified by PCR amplification and restriction enzyme analysis as described in Materials and Methods. Presence or absence of the sequence alteration on each allele is denoted by a + or − sign, respectively.