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Showing 1 to 2 of 2 for “"gray platelet syndrome"”.

  1. The role of Nbeal2 in the homeostasis and retention of granules in haematopoietic cells

    Gray platelet syndrome (GPS) is a rare disorder primarily characterised by the absence of α-granules in platelets. Typical clinical features of GPS include macrothrombocytopenia, abnormal or excessive bleeding, splenomegaly, and bone marrow fibrosis. GPS is caused by biallelic mutations in the …

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  2. Genetic and functional studies in inherited platelet disorders

    Platelets are anucleate blood cells containing secretory granules, which play a critical role in haemostasis, atherogenesis, thrombosis, and wound healing. Platelet number, volume, and function are genetically regulated, and genome wide association studies have identified more than 1000 loci …

    cambridge Repository record for Genetic and functional studies in inherited platelet disorders (opens in a new tab)