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Showing 1 to 1 of 1 for “"gene mutations propeptide"”.
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PATHOPHYSIOLOGY OF VON WILLEBRAND FACTOR IN BLEEDING AND THROMBOSIS
… novel variant p.Thr274Pro localized in the VWF propeptide (VWFpp). This variant showed a dominant negative effect in contrast with other previously reported variants found nearby it, which have been described to be responsible for type 3 or type 2A/IIC VWD. Therefore, we decided to perform an in …