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Identification of novel mutations of the human N-acetylglut..:

Schmidt, Eva ; Nuoffer, Jean-Marc ; Häberle, Johannes...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease.  1740 (2005)  1 - p. 54-59 , 2005
Link: https://doi.org/10.1016/j.bbadis.2005.02.006