A mitochondrial mutation at nt 9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathy

Am J Hum Genet. 1995 May;56(5):1238-40.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Aged
  • DNA, Mitochondrial / genetics
  • DNA, Mitochondrial / metabolism
  • Deoxyribonucleases, Type II Site-Specific / metabolism
  • Female
  • Finland / epidemiology
  • Humans
  • Male
  • Mitochondria / enzymology
  • Mitochondria / genetics*
  • Mutation*
  • Optic Atrophies, Hereditary / enzymology
  • Optic Atrophies, Hereditary / epidemiology
  • Optic Atrophies, Hereditary / genetics*
  • Oxidative Phosphorylation*
  • Pedigree
  • Polymerase Chain Reaction
  • Proton-Translocating ATPases / genetics*

Substances

  • DNA, Mitochondrial
  • endodeoxyribonuclease MboII
  • Deoxyribonucleases, Type II Site-Specific
  • Proton-Translocating ATPases