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- databases for immunodeficiency-causing variations

   PRKDCbase
   Variation registry for  severe combined immunodeficiency (DNA-PKc)


PRKDCbase mutation publications

[2009]

Search PubMed latest citations for PRKDC mutations

    2009

  • A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining.
    van der Burg M, Ijspeert H, Verkaik NS, Turul T, Wiegant WW, Morotomi-Yano K, Mari PO, Tezcan I, Chen DJ, Zdzienicka MZ, van Dongen JJ, van Gent DC
    J Clin Invest 2009(1): 91-8 [PubMed abstract].