Characterization of seven novel mutations in seven patients with GAMT deficiency.

C. B. Item, S. Mercimek-Mahmutoglu, R. Battini, C. Edlinger-Horvat, C. Stromberger, O. Bodamer, A. Mühl, M. A. Vilaseca, H. Korall, S. Stöckler-Ipsiroglu

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Medicine & Life Sciences