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M.S. van der Knaap, P.A. Leegwater, C.G. van Berkel, C. Brenner, E. Storey, M. Di Rocco, F. Salvi, J.C. Pronk, “Arg113His mutation in eIF2Bepsilon as cause of leukoencephalopathy in adults”, Neurology, vol. 62, 2004, pp.1464-1465.

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