Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations.

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Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations.

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2015 nî lūn-bûn

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2015年学术文章

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Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations.

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Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations.

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Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations.

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P1476

Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations

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P2093

Anna-Helene Bohr

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Elsebet Ostergaard

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Flemming Wibrand

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Kirstine Ravn

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Morten Duno

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Rikke M Hansen

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P2860

Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficiencies

Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs

Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu

The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1

Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.

Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle

Infantile Progressive Hepatoencephalomyopathy with Combined OXPHOS Deficiency due to Mutations in the Mitochondrial Translation Elongation Factor Gene GFM1.

Toward genotype phenotype correlations in GFM1 mutations.

Limited diagnostic value of enzyme analysis in patients with mitochondrial tRNA mutations.

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5-10

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scholarly article

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10.1016/J.YMGMR.2015.01.004

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P478

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Bitten Schönewolf-Greulich

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2015-02-20T00:00:00Z

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272522353

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26937387

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4750589

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