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Schmidt, Eva; Nuoffer, Jean-Marc; Häberle, Johannes; Pauli, Silke; Guffon, Nathalie; Vianey-Saban, Christine; Wermuth, Bendicht; Koch, Hans Georg (2005). Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies. Biochimica et biophysica acta - molecular basis of disease, 1740(1), pp. 54-59. Elsevier 10.1016/j.bbadis.2005.02.006
