Identification of a New Frameshift Mutation (1801delAG) in the ALD Gene

Hum Mol Genet. 1994 Oct;3(10):1889-90. doi: 10.1093/hmg/3.10.1889.

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 / metabolism
  • Amino Acid Sequence
  • Base Sequence
  • Child
  • Exons
  • Fatty Acids, Nonesterified / blood
  • Fatty Acids, Nonesterified / metabolism
  • Fibroblasts / metabolism
  • Frameshift Mutation*
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Reference Values

Substances

  • ABCD1 protein, human
  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters
  • Fatty Acids, Nonesterified
  • Membrane Proteins