Article
Pathologic mechanisms of type 1 VWD mutations R1205H and Y1584C through in vitro and in vivo mouse models.
Blood - 21 Apr 2011
Pruss Cynthia M, Golder Mia, Bryant Andrea, Hegadorn Carol A, Burnett Erin, Laverty Kimberly, Sponagle Kate, Dhala Aly, Notley Colleen, Haberichter Sandra, Lillicrap David
Abstract excerpt
Type 1 VWD is the mild to moderate reduction of VWF levels. This study examined the mechanisms underlying 2 common type 1 VWD mutations, the severe R1205H and more moderate Y1584C. In vitro biosynthesis was reduced for both mutations in human and mouse VWF, with the effect being more severe in R1205H. VWF knockout mice received hydrodynamic injections of mouse Vwf cDNA. Lower VWF antigen levels were demonstrated...
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