TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies / Powell, Christopher A; Kopajtich, Robert; D'Souza, Aaron R.; Rorbach, Joanna; Kremer, Laura S.; Husain, Ralf A.; Dallabona, Cristina; Donnini, Claudia; Alston, Charlotte L.; Griffin, Helen; Pyle, Angela; Chinnery, Patrick F.; Strom, Tim M.; Meitinger, Thomas; Rodenburg, Richard J.; Schottmann, Gudrun; Schuelke, Markus; Romain, Nadine; Haller, Ronald G.; Ferrero, Ileana; Haack, Tobias B.; Taylor, Robert W.; Prokisch, Holger; Minczuk, Michal. - In: AMERICAN JOURNAL OF HUMAN GENETICS. - ISSN 0002-9297. - 97:2(2015), pp. 319-328. [10.1016/j.ajhg.2015.06.011]

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

DALLABONA, Cristina;DONNINI, Claudia;
2015

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies / Powell, Christopher A; Kopajtich, Robert; D'Souza, Aaron R.; Rorbach, Joanna; Kremer, Laura S.; Husain, Ralf A.; Dallabona, Cristina; Donnini, Claudia; Alston, Charlotte L.; Griffin, Helen; Pyle, Angela; Chinnery, Patrick F.; Strom, Tim M.; Meitinger, Thomas; Rodenburg, Richard J.; Schottmann, Gudrun; Schuelke, Markus; Romain, Nadine; Haller, Ronald G.; Ferrero, Ileana; Haack, Tobias B.; Taylor, Robert W.; Prokisch, Holger; Minczuk, Michal. - In: AMERICAN JOURNAL OF HUMAN GENETICS. - ISSN 0002-9297. - 97:2(2015), pp. 319-328. [10.1016/j.ajhg.2015.06.011]
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11381/2795853
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 58
  • ???jsp.display-item.citation.isi??? 57
social impact