A case of recessive type 2N von Willebrand's disease due to Arg 53 Trp substitution.
Pérez-Casal
M
M
Daly
M
M
Peake
I
I
Batlle
J
J
D000293:Adolescent; D000328:Adult; D001120:Arginine; D005169:Factor VIII / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D014364:Tryptophan; D014842:von Willebrand Diseases / Q000235:genetics*; D014841:von Willebrand Factor / Q000235:genetics*
D014841:von Willebrand Factor; D014364:Tryptophan; D005169:Factor VIII; D001120:Arginine