Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency.

No abstract is available for this paper.

• Publication year

  2004

• Venue

  New England Journal of Medicine

• Publication date

  2004-11-11

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1056/NEJMOA041878PMID 15537906
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Disorders of mitochondrial protein synthesis.

  2003cited by this paper
• Identification of Mammalian Mitochondrial Translational Initiation Factor 3 and Examination of Its Role in Initiation Complex Formation with Natural mRNAs*

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• Coupling of GTP hydrolysis by elongation factor G to translocation and factor recycling on the ribosome.

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  2001cited by this paper
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  2000cited by this paper
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  2000cited by this paper
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  1999cited by this paper
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  1998cited by this paper
• Identification and cloning of human mitochondrial translational release factor 1 and the ribosome recycling factor.

  1998cited by this paper
• The human mitochondrial elongation factor tu (EF-Tu) gene: cDNA sequence, genomic localization, genomic structure, and identification of a pseudogene.

  1997cited by this paper
• Favourable clinical course in an infant with severe deficiency of complex III of the respiratory chain combined with less severe deficiencies of complexes I, II and IV

  1997cited by this paper
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  1996cited by this paper
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  1995cited by this paper
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