An Additional Unique Candidate Mutation (G2470A; M740I) in the Original Families with von Willebrand Disease Type 2 M Vicenza and the G3864A (R1205H) Mutation

• References

• 1 Mannucci PM, Lombardi R, Castaman G, Dent JA, Lattuada A, Rodeghiero F, Zimmerman TS. Von Willebrand disease “Vicenza” with larger-than-normal (supranormal) von Willebrand factor multimers. Blood 1988; 71: 65-70.
• 2 Schneppenheim R, Federici AB, Budde U, Castaman G, Drewke E, Krey S, Mannucci PM, Riesen G, Rodeghiero F, Zieger B, Zimmermann R. Von Willebrand disease type 2 M “Vicenza” in Italian and German patients: identification of the first candidate mutation (G3864A; R1205H) in 8 families. ThrombHaemost 2000; 82: 136-40.
• 3 Bodò I, Katsumi A, Tuley E, Schlammadinger A, Boda Z, Sadler JE. Mutations causing dominant type 1 von Willebrand disease with high penetrance. Blood 1999; 94 (Suppl. 01) 1661.
• 4 Ganguly A, Rock MJ, Prockop DJ. Conformation sensitive gel electrophoresis for rapid detection of single base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci USA 1993; 90: 10325-9.
• 5 Rodeghiero F, Tosetto A. The epidemiology of inherited thrombophilia: The VITA project. Thromb Haemost 1997; 78: 636-40.