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Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia

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Year: 2016
Type: article
Study design: Observational Study
Source: The American Journal of Human Genetics
DOI: 10.1016/j.ajhg.2016.10.010
Authors: Michael Zech, Sylvia Boesch, Esther M. Maier, Ingo Borggraefe, Katharina Vill, Franco Laccone, Veronika Pilshofer, Andres Ceballos-Baumann, Bader Alhaddad, Riccardo Berutti, Werner Poewe, Tobias B. Haack, Bernhard Haslinger, Tim M. Strom, Juliane Winkelmann
Institutions: TUM Klinikum, Helmholtz Munich, Technical University of Munich, Innsbruck Medical University, Universität Innsbruck, Ludwig-Maximilians-Universität München, Medical University of Vienna, Ordensklinikum Linz Barmherzige Schwestern, München Klinik Schwabing, Schön Klinik München Schwabing, Institut für Humangenetik, Universitätsklinikum Tübingen, University of Tübingen, Munich Cluster for Systems Neurology
Language: English

Topic: Neurological disorders and treatments
Subfield: Neurology
Field: Medicine
Domain: Health Sciences
SDG: Good health and well-being

Open Access status: bronze

Funders: Else Kröner-Fresenius-Stiftung, Technische Universität München, Medizinische Universität Innsbruck, Helmholtz Zentrum München
Award: G52684180
OpenAlex ID: W2549257975
FWCI: 9.655
Cites: 45
Cited by: 171
Related to: 10
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