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   RAC2base
   Variation registry for  Neutrophil immunodeficiency syndrome


RAC2base mutation publications

[2001] [2000]

Search PubMed latest citations for RAC2 mutations

    2001

  • Clinical features of a human Rac2 mutation: a complex neutrophil dysfunction disease.
    Kurkchubasche AG, Panepinto JA, Tracy TF, Thurman GW, Ambruso DR
    J Pediatr 2001(1): 141-7 [PubMed abstract].

    2000

  • Dominant negative mutation of the hematopoietic-specific Rho GTPase, Rac2, is associated with a human phagocyte immunodeficiency.
    Williams DA, Tao W, Yang F, Kim C, Gu Y, Mansfield P, Levine JE, Petryniak B, Derrow CW, Harris C, Jia B, Zheng Y, Ambruso DR, Lowe JB, Atkinson SJ, Dinauer MC, Boxer L
    Blood 2000(5): 1646-54 [PubMed abstract].

  • Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation.
    Ambruso DR, Knall C, Abell AN, Panepinto J, Kurkchubasche A, Thurman G, Gonzalez-Aller C, Hiester A, deBoer M, Harbeck RJ, Oyer R, Johnson GL, Roos D
    Proc Natl Acad Sci U S A 2000(9): 4654-9 [PubMed abstract].

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