Mutational Analysis of an X-linked Adrenoleukodystrophy (ALD) Patient With Detectable ALD Protein

Ann N Y Acad Sci. 1996 Dec 27;804:756-9. doi: 10.1111/j.1749-6632.1996.tb18692.x.

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*
  • ATP-Binding Cassette Transporters / metabolism
  • Adrenoleukodystrophy / genetics*
  • Female
  • Fluorescent Antibody Technique, Indirect
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Membrane Proteins / metabolism
  • Pedigree
  • Polymorphism, Single-Stranded Conformational
  • X Chromosome

Substances

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