A De Novo Adrenoleukodystrophy Gene (ABCD1) Mutation S636I Without Detectable ABCD1 Protein and a R104C Mutation With Normal Amounts of Protein From an Austrian Patient Collective

Hum Mutat. 2000 Dec;16(6):534. doi: 10.1002/1098-1004(200012)16:6<534::AID-HUMU25>3.0.CO;2-U.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily D
  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters / genetics
  • Adrenal Insufficiency / genetics
  • Adrenoleukodystrophy / genetics*
  • Adult
  • Amino Acid Substitution / genetics*
  • Arginine / genetics
  • Cysteine / genetics
  • Humans
  • Isoleucine / genetics
  • Mutation, Missense / genetics*
  • Proteins / analysis*
  • Proteins / genetics*
  • Serine / genetics

Substances

  • ABCD1 protein, human
  • ABCD2 protein, human
  • ATP Binding Cassette Transporter, Subfamily D
  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters
  • Proteins
  • Isoleucine
  • Serine
  • Arginine
  • Cysteine