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

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 2041-1723

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder ; volume:9 ; number:1 ; day:3 ; month:10 ; year:2018 ; pages:1-14 ; date:12.2018
Nature Communications ; 9, Heft 1 (3.10.2018), 1-14, 12.2018

Creator: Friederich, Marisa W.

Contributor: Timal, Sharita
Powell, Christopher A.
Dallabona, Cristina
Kurolap, Alina
Palacios-Zambrano, Sara
Bratkovic, Drago
Derks, Terry G. J.
Bick, David
Bouman, Katelijne
Chatfield, Kathryn C.
Damouny-Naoum, Nadine
Dishop, Megan K.
Falik-Zaccai, Tzipora C.
Fares, Fuad
Fedida, Ayalla
Ferrero, Ileana
Gallagher, Renata C.
Garesse, Rafael
Gilberti, Micol
González, Cristina
Gowan, Katherine
Habib, Clair
Halligan, Rebecca K.
Kalfon, Limor
Knight, Kaz
Lefeber, Dirk
Mamblona, Laura
Mandel, Hanna
Mory, Adi
Ottoson, John
Paperna, Tamar
Pruijn, Ger J. M.
Rebelo-Guiomar, Pedro F.
Saada, Ann
Sainz, Bruno
Salvemini, Hayley
Schoots, Mirthe H.
Smeitink, Jan A.
Szukszto, Maciej J.
ter Horst, Hendrik J.
van den Brandt, Frans
van Spronsen, Francjan J.
Veltman, Joris A.
Wartchow, Eric
Wintjes, Liesbeth T.
Zohar, Yaniv
Fernández-Moreno, Miguel A.
Baris, Hagit N.
Donnini, Claudia
Minczuk, Michal
Rodenburg, Richard J.
Van Hove, Johan L. K.
SpringerLink (Online service)

DOI: 10.1038/s41467-018-06250-w

URN: urn:nbn:de:101:1-2018111023402446038699

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:52 AM CEST

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Associated

Friederich, Marisa W.
Timal, Sharita
Powell, Christopher A.
Dallabona, Cristina
Kurolap, Alina
Palacios-Zambrano, Sara
Bratkovic, Drago
Derks, Terry G. J.
Bick, David
Bouman, Katelijne
Chatfield, Kathryn C.
Damouny-Naoum, Nadine
Dishop, Megan K.
Falik-Zaccai, Tzipora C.
Fares, Fuad
Fedida, Ayalla
Ferrero, Ileana
Gallagher, Renata C.
Garesse, Rafael
Gilberti, Micol
González, Cristina
Gowan, Katherine
Habib, Clair
Halligan, Rebecca K.
Kalfon, Limor
Knight, Kaz
Lefeber, Dirk
Mamblona, Laura
Mandel, Hanna
Mory, Adi
Ottoson, John
Paperna, Tamar
Pruijn, Ger J. M.
Rebelo-Guiomar, Pedro F.
Saada, Ann
Sainz, Bruno
Salvemini, Hayley
Schoots, Mirthe H.
Smeitink, Jan A.
Szukszto, Maciej J.
ter Horst, Hendrik J.
van den Brandt, Frans
van Spronsen, Francjan J.
Veltman, Joris A.
Wartchow, Eric
Wintjes, Liesbeth T.
Zohar, Yaniv
Fernández-Moreno, Miguel A.
Baris, Hagit N.
Donnini, Claudia
Minczuk, Michal
Rodenburg, Richard J.
Van Hove, Johan L. K.
SpringerLink (Online service)

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

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Other Objects (12)

Stereoisomerentrennung von Glutamyl- und iso-Glutamyl-Peptiden mit der Kapillarektrophorese : Untersuchungen zum Abbau von Glutamyl-Peptiden

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Synthesen einiger Glutamyl-Oligopeptide

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Synthesen einiger Glutamyl-Oligopeptide

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Synthese und kernresonanzspektroskopische Strukturuntersuchungen einiger γ- Glutamyl- [Gamma-Glutamyl-Peptide] und Alanyl-Peptide

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Toll-like receptor pre-stimulation protects mice against lethal infection with highly pathogenic influenza viruses

Application of median lethal concentration (LC50) of pathogenic microorganisms and their antigens in vaccine development

Lethal Affairs. Love has never been more lethal

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Novel homozygous stop-gain pathogenic variant of PPP1R13L gene leads to arrhythmogenic cardiomyopathy

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