Bi-allelic ADPRHL2 mutations cause neurodegeneration with developmental delay, ataxia, and axonal neuropathy
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| Hauptverfasser: | , , , , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
1 November 2018
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| In: |
The American journal of human genetics
Year: 2018, Jahrgang: 103, Heft: 5, Pages: 817-825 |
| ISSN: | 1537-6605 |
| DOI: | 10.1016/j.ajhg.2018.10.005 |
| Online-Zugang: | Resolving-System, Volltext: https://doi.org/10.1016/j.ajhg.2018.10.005
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| Verfasserangaben: | Katharina Danhauser, Bader Alhaddad, Christine Makowski, Dorota Piekutowska-Abramczuk, Steffen Syrbe, Natalia Gomez-Ospina, Melanie A. Manning, Anna Kostera-Pruszczyk, Claudia Krahn-Peper, Riccardo Berutti, Reka Kovács-Nagy, Mirjana Gusic, Elisabeth Graf, Lucia Laugwitz, Michaela Röblitz, Andreas Wroblewski, Hans Hartmann, Anibh M. Das, Eva Bültmann, Fang Fang, Manting Xu, Ulrich A. Schatz, Daniela Karall, Herta Zellner, Edda Haberlandt, René G. Feichtinger, Johannes A. Mayr, Thomas Meitinger, Holger Prokisch, Tim M. Strom, Rafał Płoski, Georg F. Hoffmann, Maciej Pronicki, Penelope E. Bonnen, Susanne Morlot, and Tobias B. Haack |
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