Combined PT-VWD with type 2B VWD Phenotype


UPDATE: March 2018.

The combination of two mutations: one in the VWF gene causing type 2B VWD and another in the platelet GP1BA gene causing a PT-VWD phenotype has been reported.  Thromb Haemost. 2016 Sep 29;116(5)  Read the summary here . An abstract about another combination (with the same PT-VWD mutation) was found in 2011.



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