Direct sequencing of the vWD 2A/IIE frameshift mutation 8566delC and the vWD 3 transversion 8512T>G.

(A) The mutation 8566delC in the translated region of exon 52 of the vWF gene predicts an aberrant and elongated translation product and is present only in the patient, not in either of her parents. The WT sequence is in boldface type. (B) The patient 0203 is homozygous for the transversion 8512T>G, which predicts the amino acid substitution C2754W; both parents are heterozygous. Numbers correspond to those in Table 1.