Pedigree of the FV-deficient proband and electropherograms showing the identified missense mutation.

(A) Pedigree of the Italian family. Plasma FV coagulant activity (FV:C; % [reference interval 58%-140%]) and antigen level (FV:Ag; %; [reference interval 64%-139%]) are indicated in this order below each symbol. The arrow indicates the proband. (B) DNA sequencing electropherograms showing the mutation identified in the FV-deficient proband. The C-to-T transition is indicated by an arrow (numbering according to Jenny et al1). DNA sequences of a healthy control individual and of the heterozygous father are also reported. The predicted amino acid (aa) sequences are designated by their one-letter codes below the corresponding nucleotide (nt) sequences; in the nucleotide sequence, Y denotes C or T nucleotide.