Combined PT-VWD & type 2B VWD Phenotype


UPDATE: March 2018.

The first report of a combination of two mutations: one in the VWF gene; causing type 2B VWD (p.Pro1266Leu; type 2B VWD Malmö/New York) and another in the platelet GP1BA gene; causing a PT-VWD phenotype (p.Met255ILe) has been reported. Thromb Haemost. 2016 Sep 29;116(5).


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