Pathological significance of the mtDNA COX III mutation at nucleotide pair 9438 in Leber hereditary optic neuropathy

Am J Hum Genet. 1994 Aug;55(2):410-2.
No abstract available

Publication types

  • Letter

MeSH terms

  • African Continental Ancestry Group / genetics
  • Blindness / genetics
  • DNA, Mitochondrial / genetics*
  • Deoxyribonucleases, Type II Site-Specific
  • Electron Transport Complex IV / genetics*
  • European Continental Ancestry Group / genetics
  • Humans
  • Mutation*
  • Optic Atrophies, Hereditary / genetics*

Substances

  • DNA, Mitochondrial
  • Electron Transport Complex IV
  • Deoxyribonucleases, Type II Site-Specific
  • GGCC-specific type II deoxyribonucleases