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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Detaylı Bibliyografya
Yayımlandı:Mol Genet Metab Rep
Asıl Yazarlar: Ravn, Kirstine, Schönewolf-Greulich, Bitten, Hansen, Rikke M., Bohr, Anna-Helene, Duno, Morten, Wibrand, Flemming, Ostergaard, Elsebet
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier 2015
Konular:
Research Paper
Online Erişim: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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