A p.Arg127Gln variant in GPIbα LRR5 allosterically enhances affinity for VWF: a novel form of platelet-type VWD.
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DOI: 10.1182/bloodadvances.2021005463
Abstract: Gain-of-function (GoF) variants in GP1BA cause platelet-type von Willebrand disease (PT-VWD), a rare inherited autosomal dominant bleeding disorder characterized by enhanced platelet GPIbα-von Willebrand factor (VWF) interaction and thrombocytopenia. To date, only 6 variants causing… read more here.
Keywords: disulfide loop; terminal disulfide; gpib; affinity vwf ... See more keywords