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Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

Lookup NU author(s): Professor Joris VeltmanORCiD

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This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


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Author(s): Friederich MW, Timal S, Powell CA, Dallabona C, Kurolap A, Palacios-Zambrano S, Bratkovic D, Derks TGJ, Bick D, Bouman K, Chatfield KC, Damouny-Naoum N, Dishop MK, Falik-Zaccai TC, Fares F, Fedida A, Ferrero I, Gallagher RC, Garesse R, Gilberti M, González C, Gowan K, Habib C, Halligan RK, Kalfon L, Knight K, Lefeber D, Mamblona L, Mandel H, Mory A, Ottoson J, Paperna T, Pruijn GJM, Rebelo-Guiomar PFR, Saada A, Sainz Jr B, Alvemini H, Schoots MH, Smeitink JA, Szukszto MJ, ter Horst HJ, van den Brandt F, van Spronsen FJ, Veltman JA, Wartchow E, Wintjes LT, Zohar Y, Fernández-Moreno MA, Baris HN, Donnini C, Minczuk M, Rodenburg RJ, Van Hove JLK

Publication type: Article

Publication status: Published

Journal: Nature Communications

Year: 2018

Volume: 9

Online publication date: 03/10/2018

Acceptance date: 23/08/2018

Date deposited: 23/08/2018

ISSN (electronic): 2041-1723

Publisher: Springer Nature

URL: https://doi.org/10.1038/s41467-018-06250-w

DOI: 10.1038/s41467-018-06250-w


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Funding

Funder referenceFunder name
MC_U105697135
MC_UU_00015/4
Medical Research Council, UK

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