Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype
© 2017, Springer-Verlag Berlin Heidelberg. Mitochondrial protein synthesis is initiated by formylated tRNA-methionine, which requires the activity of MTFMT, a methionyl-tRNA formyltransferase. Mutations in MTFMT have been associated with Leigh syndrome, early-onset mitochondrial leukoencephalopathy,...
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Main Authors: | Roberta La Piana, Woranontee Weraarpachai, Luis H. Ospina, Martine Tetreault, Jacek Majewski, G. Bruce Pike, Jean Claude Decarie, Donatella Tampieri, Bernard Brais, Eric A. Shoubridge |
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Format: | Journal |
Published: |
2018
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Online Access: | https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85008500706&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/46416 |
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Institution: | Chiang Mai University |
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