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Biallelic Variants inUBA5 Reveal thatDisruption of theUFM1 Cascade CanResult in Early-OnsetEncephalopathy Estelle ColinJens DanielAlban Ziegler2016 год

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy
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Год издания: 2016
Авторы: Estelle Colin, Jens Daniel, Alban Ziegler, Jamal Wakim, Aurora Scrivo, Tobias B. Haack, Salim Khiati, Anne‐Sophie Denommé‐Pichon, Patrizia Amati‐Bonneau, Majida Charif, Vincent Procaccio, Pascal Reynier, Kyrieckos A. Aleck, Lorenzo D. Botto, Claudia Lena Herper, Charlotte Sophia Kaiser, Rima Nabbout, Sylvie N’Guyen, José Antonio Mora-Lorca, Birgit Assmann, Stine Christ, Thomas Meitinger, Tim M. Strom, Holger Prokisch, Antonio Miranda‐Vizuete, Georg F. Hoffmann, Guy Lenaers, Pascale Bomont, Eva Liebau, Dominique Bonneau, Emmanuelle Génin, Dominique Campion, Jean‐François Dartigues, Jean‐François Deleuze, Jean‐Charles Lambert, Richard Redon, Thomas Ludwig, Benjamin Grenier‐Boley, Sébastien Letort, Pierre Lindenbaum, Vincent Meyer, Olivier Quenez, Christian Dina, Céline Bellenguez, Camille Charbonnier -Le Clézio, Joanna Giemza, Stéphanie Chatel, Claude Férec, Hervé Le Marec, Luc Letenneur, Gaël Nicolas, Karen Rouault, Delphine Bacq, Anne Boland, Doris Lechner
Издательство: Elsevier BV
Источник: The American Journal of Human Genetics
Ключевые слова: Genetics and Neurodevelopmental Disorders, Mitochondrial Function and Pathology, Cellular transport and secretion
Другие ссылки: The American Journal of Human Genetics (PDF)
The American Journal of Human Genetics (HTML)
HAL (Le Centre pour la Communication Scientifique Directe) (HTML)
HAL (Le Centre pour la Communication Scientifique Directe) (HTML)
RISalud Institutional Health Repository of Andalucía (PDF)
RISalud Institutional Health Repository of Andalucía (HTML)
PubMed Central (HTML)
PubMed (HTML)