An additional unique candidate mutation (G2470A; M740I) in the original families with von Willebrand disease type 2 M Vicenza and the G3864A (R1205H) mutation.
Castaman
G
G
Missiaglia
E
E
Federici
A B
AB
Schneppenheim
R
R
Rodeghiero
F
F
D004252:DNA Mutational Analysis; D005060:Europe / Q000453:epidemiology; D005192:Family Health; D005820:Genetic Testing; D014644:Genetic Variation; D006579:Heterozygote; D006801:Humans; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics*; D014842:von Willebrand Diseases / Q000453:epidemiology / Q000235:genetics*; D014841:von Willebrand Factor / Q000235:genetics / Q000378:metabolism
D014841:von Willebrand Factor