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Autor:
Charlotte M. Niemeyer, Barbara Selle, M Orlowska-Volk, Anke M.J. Peters, Ulrich Pannicke, Anselm Enders, W. Friedrich, Detlev Schindler, Ulrich Duffner, Elisabeth Nikolopoulos, Stephan Ehl, Klaus Schwarz, Paul Fisch
Publikováno v:
The Journal of Immunology. 176:5060-5068
DNA ligase IV (LigIV) deficiency was identified as the molecular basis for a severe form of combined immunodeficiency in two microcephalic siblings with cellular radiosensitivity. In one patient the diagnosis was made directly after birth, allowing a