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Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations

Disorders caused by defects in the mitochondrial translation system are clinically and genetically heterogeneous. The elongation phase of mitochondrial protein synthesis requires, among many other components, three nuclear-encoded elongation factors: EFTu (TUFM; 602389), EFTs (TSFM; 604723), and EFG...

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Bibliografiske detaljer
Udgivet i:Mol Genet Metab Rep
Main Authors: Ravn, Kirstine, Schönewolf-Greulich, Bitten, Hansen, Rikke M., Bohr, Anna-Helene, Duno, Morten, Wibrand, Flemming, Ostergaard, Elsebet
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2015
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4750589/
https://ncbi.nlm.nih.gov/pubmed/26937387
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2015.01.004
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