A common nonsense mutation results in alpha-actinin-3 deficiency in the general population

Nat Genet. 1999 Apr;21(4):353-4. doi: 10.1038/7675.
No abstract available

Publication types

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

MeSH terms

  • Actinin / deficiency*
  • Actinin / genetics*
  • Actinin / metabolism
  • Blotting, Western
  • Codon, Nonsense
  • Codon, Terminator
  • Deoxyribonucleases, Type II Site-Specific / genetics
  • Gene Frequency
  • Genetics, Population*
  • Homozygote
  • Humans
  • Immunohistochemistry
  • Linkage Disequilibrium
  • Male
  • Muscle Fibers, Skeletal / metabolism
  • Muscle Fibers, Skeletal / pathology
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Muscular Dystrophies / genetics
  • Mutation*
  • Neuromuscular Diseases / genetics*
  • Protein Isoforms / genetics
  • Protein Isoforms / metabolism
  • Reverse Transcriptase Polymerase Chain Reaction

Substances

  • ACTN3 protein, human
  • Codon, Nonsense
  • Codon, Terminator
  • Protein Isoforms
  • Actinin
  • endodeoxyribonuclease DdeI
  • Deoxyribonucleases, Type II Site-Specific