Missense Mutations Are Frequent in the Gene for X-chromosomal Adrenoleukodystrophy (ALD)

Hum Mol Genet. 1994 Oct;3(10):1903-5. doi: 10.1093/hmg/3.10.1903.

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*
  • Amino Acid Sequence
  • Base Sequence
  • Codon / genetics
  • Conserved Sequence
  • DNA Primers
  • Exons
  • Female
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Pedigree
  • Point Mutation*
  • Polymerase Chain Reaction
  • Restriction Mapping
  • X Chromosome*

Substances

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