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A Disease-causing Point Mutation in Human Mitochondrial tRNA(Met) Results in tRNA Misfolding Leading to Defects in Translational Initiation and Elongation

  作者 Jones, CN; Jones, CI; Graham, WD; Agris, PF; Spremulli, LL  
  选自 期刊  Journal of Biological Chemistry;  卷期  2008年283-49;  页码  34445-34456  
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[摘要]The mitochondrial tRNA genes are hot spots for mutations that lead to human disease. A single point mutation (T4409C) in the gene for human mitochondrial tRNAMet (hmtRNA(Met)) has been found to cause mitochondrial myopathy. This mutation results in the re

 
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