A novel missense mutation (L198R) in the Friedreich's ataxia gene

Hum Mutat. 2000 Jul;16(1):95. doi: 10.1002/1098-1004(200007)16:1<95::AID-HUMU29>3.0.CO;2-E.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution / genetics*
  • Arginine / genetics
  • Friedreich Ataxia / genetics*
  • Genes, Recessive / genetics
  • Homozygote
  • Humans
  • Leucine / genetics
  • Mutation, Missense / genetics*
  • Trinucleotide Repeat Expansion / genetics

Substances

  • Arginine
  • Leucine