Identification of Two New Nonsense Mutations (Q311X and W326X) in Exon 2 of the Adrenoleukodystrophy (ALD) Gene

Hum Mutat. 1996;8(3):286-7. doi: 10.1002/(SICI)1098-1004(1996)8:3<286::AID-HUMU17>3.0.CO;2-Z.

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*
  • Adolescent
  • Adrenoleukodystrophy / genetics*
  • Adult
  • Child
  • Cytosine
  • DNA Primers
  • Deoxyribonucleases, Type II Site-Specific
  • Exons
  • Female
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Nuclear Family
  • Point Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Thymine

Substances

  • ABCD1 protein, human
  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters
  • DNA Primers
  • Membrane Proteins
  • Cytosine
  • CTAG-specific type II deoxyribonucleases
  • Deoxyribonucleases, Type II Site-Specific
  • Thymine