First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy

Hum Mutat. 1998;Suppl 1:S204-6. doi: 10.1002/humu.1380110166.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters / genetics*
  • Adrenoleukodystrophy / genetics*
  • Adrenoleukodystrophy / pathology
  • Amino Acid Substitution
  • DNA / chemistry
  • DNA / genetics
  • DNA / metabolism
  • DNA Mutational Analysis
  • Deoxyribonuclease HpaII / metabolism
  • Exons / genetics*
  • Family Health
  • Female
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Middle Aged
  • Mutation, Missense
  • Point Mutation

Substances

  • ABCD1 protein, human
  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters
  • Membrane Proteins
  • DNA
  • Deoxyribonuclease HpaII