Two previously unrecognized splicing mutations of GCH1 in Dopa-responsive dystonia: exon skipping and one base insertion
YG Weber(Justus-Liebig-Universität Gießen), Ulrich Müller(Justus-Liebig-Universität Gießen), R. Benecke(Children's Hospital of Philadelphia), Günther Deuschl(Christian-Albrechts-Universität zu Kiel), Daniela Steinberger(MBN Research Center)
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