Novel Human Pathological Mutations. Gene Symbol: ABCD1. Disease: X-linked Adrenoleukodystrophy

Hum Genet. 2010 Apr;127(4):486.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters / genetics*
  • Adolescent
  • Adrenoleukodystrophy / genetics*
  • Argentina
  • Base Sequence
  • Codon / genetics
  • Codon, Nonsense
  • Exons
  • Frameshift Mutation
  • Hemizygote
  • Humans
  • Male
  • Open Reading Frames
  • Sequence Deletion

Substances

  • ABCD1 protein, human
  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters
  • Codon
  • Codon, Nonsense