A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family

Am J Hum Genet. 1997 Jul;61(1):233-8. doi: 10.1016/S0002-9297(07)64297-9.
No abstract available

Publication types

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

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Carrier Proteins / genetics*
  • Cation Transport Proteins*
  • Copper-Transporting ATPases
  • Cutis Laxa / genetics*
  • Exons / genetics*
  • Female
  • Humans
  • Male
  • Mutation
  • Pedigree
  • Recombinant Fusion Proteins*
  • Syndrome

Substances

  • Carrier Proteins
  • Cation Transport Proteins
  • Recombinant Fusion Proteins
  • Adenosine Triphosphatases
  • ATP7A protein, human
  • Copper-Transporting ATPases