Article
Sequence variation in the tRNA genes of human mitochondrial DNA.
Journal of molecular evolution - 1 May 2005
Vilmi Tiina, Moilanen Jukka S, Finnilä Saara, Majamaa Kari
Abstract excerpt
Recent analyses have shown that nonsynonymous variation in human mitochondrial DNA (mtDNA) contains nonneutral variants, suggesting the presence of mildly deleterious mutations. Many of the disease-causing mutations in mtDNA occur in the genes encoding the tRNAs. Nucleotide sequence variation in these genes has not been studied in human populations, nor have the structural consequences of nucleotide substitutions...
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