Menkes disease mutations and response to early copper histidine treatment

Nat Genet. 1996 May;13(1):21-2. doi: 10.1038/ng0596-21.
No abstract available

Publication types

  • Letter

MeSH terms

  • Adenosine Triphosphatases / genetics
  • Carrier Proteins / genetics
  • Cation Transport Proteins*
  • Copper / therapeutic use*
  • Copper-Transporting ATPases
  • Exons
  • Histidine / analogs & derivatives*
  • Histidine / therapeutic use
  • Humans
  • Menkes Kinky Hair Syndrome / drug therapy*
  • Menkes Kinky Hair Syndrome / genetics*
  • Mutation*
  • Organometallic Compounds / therapeutic use*
  • Polymerase Chain Reaction
  • Recombinant Fusion Proteins*

Substances

  • Carrier Proteins
  • Cation Transport Proteins
  • Organometallic Compounds
  • Recombinant Fusion Proteins
  • Histidine
  • Copper
  • copper histidine
  • Adenosine Triphosphatases
  • ATP7A protein, human
  • Copper-Transporting ATPases