Von Willebrand disease caused by compound heterozygosity for p.r854q and p.r760c: diagnostic and therapeutic implications.
Koessler
J
J
Witz
E
E
Plass
A
A
Sommer
C
C
Steigerwald
U
U
Walter
U
U
Heterich
S
S
D000328:Adult; D004252:DNA Mutational Analysis; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D056725:von Willebrand Disease, Type 1 / Q000175:diagnosis* / Q000235:genetics*; D014841:von Willebrand Factor / Q000235:genetics*
D014841:von Willebrand Factor