MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy

Mitochondrial disorders are clinically and genetically heterogeneous and are associated with a variety of disease mechanisms. Defects of mitochondrial protein synthesis account for the largest subgroup of disorders manifesting with impaired respiratory chain capacity; yet, only a few have been linke...

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שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:Hum Mol Genet
Main Authors: Bugiardini, Enrico, Mitchell, Alice L, Rosa, Ilaria Dalla, Horning-Do, Hue-Tran, Pitmann, Alan M, Poole, Olivia V, Holton, Janice L, Shah, Sachit, Woodward, Cathy, Hargreaves, Iain, Quinlivan, Rosaline, Amunts, Alexey, Wiesner, Rudolf J, Houlden, Henry, Holt, Ian J, Hanna, Michael G, Pitceathly, Robert D S, Spinazzola, Antonella
פורמט: Artigo
שפה:Inglês
יצא לאור: Oxford University Press 2019
נושאים:
General Article
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC6687946/
https://ncbi.nlm.nih.gov/pubmed/31039582
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddz093
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