Novel Missense and Frameshift Mutations in the Adrenoleukodystrophy Gene

Jpn J Hum Genet. 1996 Dec;41(4):407-11. doi: 10.1007/BF01876331.

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters / genetics*
  • Adrenoleukodystrophy / ethnology
  • Adrenoleukodystrophy / genetics*
  • Asian Continental Ancestry Group / genetics
  • Child
  • Child, Preschool
  • DNA / analysis
  • DNA Primers
  • Exons
  • Frameshift Mutation / genetics*
  • Humans
  • Japan
  • Male
  • Membrane Proteins / genetics*
  • Point Mutation / genetics*
  • Polymerase Chain Reaction
  • Sequence Analysis, DNA

Substances

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