Blar i Bergen Open Research Archive på forfatter "Van Laar, Jan A. M."

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    • Novel RAB27A Variant Associated with Late-Onset Hemophagocytic Lymphohistiocytosis Alters Effector Protein Binding 

      Zondag, Timo C. E.; Torralba-Raga, Lamberto; Van Laar, Jan A. M.; Hermans, Maud A. W.; Bouman, Arjen; Hollink, Iris H. I. M.; Van Hagen, P. Martin; Briggs, Deborah A.; Hume, Alistair N.; Bryceson, Yenan (Journal article; Peer reviewed, 2022)
      Autosomal recessive mutations in RAB27A are associated with Griscelli syndrome type 2 (GS2), characterized by hypopigmentation and development of early-onset, potentially fatal hemophagocytic lymphohistiocytosis (HLH). We ...