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- databases for immunodeficiency-causing variations

   MAPBPIPbase
   Variation registry for  Endosomal adaptor protein p14 deficiency


MAPBPIPbase mutation publications

[2007]

Search PubMed latest citations for MAPBPIP mutations

    2007

  • A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14.
    Bohn G, Allroth A, Brandes G, Thiel J, Glocker E, Schäffer AA, Rathinam C, Taub N, Teis D, Zeidler C, Dewey RA, Geffers R, Buer J, Huber LA, Welte K, Grimbacher B, Klein C
    Nat Med 2007(1): 38-45 [PubMed abstract].