Leu 697-->Val mutation in mature von Willebrand factor is responsible for type IIB von Willebrand disease

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1. 1von Willebrand factor and von Willebrand disease [published erratum appears in Blood 1988 Mar;71(3):830]1987 · 435 citations
2. 2A general and fast method to generate multiple site directed mutations1992 · 216 citations
3. 3von Willebrand factor. A reduced and alkylated 52/48-kDa fragment beginning at amino acid residue 449 contains the domain interacting with platelet glycoprotein Ib.1986 · 265 citations
4. 4Identification of discontinuous von Willebrand factor sequences involved in complex formation with botrocetin. A model for the regulation of von Willebrand factor binding to platelet glycoprotein Ib.1991 · 132 citations
5. 5Plasma Collagen Cofactor Correlates with von Willebrand Factor Antigen and Ristocetin Cofactor but Not with Bleeding Time1988 · 7 citations