Published in Blood Weekly, December 3rd, 2009
"The index case had a VWF:RCo of 11 IU dL-1, with VWF:RCo/VWF:Ag ratio of 0.09. DNA sequencing revealed a novel P1467S mutation in a known ristocetin-binding region of the A1 domain. Because of the discrepancy between the laboratory findings, consistent with type 2M...
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