Novel Mutation in ATP-binding Domain of ABCD1 Gene in Adrenoleukodystrophy

J Genet. 2010 Dec;89(4):473-7. doi: 10.1007/s12041-010-0067-1.

Publication types

  • Case Reports
  • Comparative Study
  • 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*
  • Age of Onset
  • Amino Acid Sequence
  • Case-Control Studies
  • Conserved Sequence
  • DNA Mutational Analysis
  • Fathers
  • Heterozygote
  • Humans
  • India
  • Male
  • Middle Aged
  • Models, Molecular
  • Molecular Sequence Data
  • Mothers
  • Mutation*
  • Mutation, Missense
  • Pedigree
  • Point Mutation
  • Protein Structure, Tertiary / genetics
  • Sequence Homology, Amino Acid

Substances

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