Inherited and de novo mutations of ADAMTS13 in a patient with Upshaw-Schulman syndrome.
Kokame
K
K
Aoyama
Y
Y
Matsumoto
M
M
Fujimura
Y
Y
Miyata
T
T
D051722:ADAM Proteins / Q000172:deficiency / Q000235:genetics*; D000071120:ADAMTS13 Protein; D005192:Family Health; D006470:Hemorrhage / Q000151:congenital*; D006801:Humans; D009154:Mutation; D010375:Pedigree; D013577:Syndrome; D013927:Thrombosis / Q000151:congenital*
D051722:ADAM Proteins; D000071120:ADAMTS13 Protein; C099604:ADAMTS13 protein, human