A novel deletion mutation of ATP7A gene in a Chinese family with Menkes disease

Chin Med J (Engl). 2008 Jan 20;121(2):175-7. doi: 10.3901/jme.2008.05.175.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Cation Transport Proteins / genetics*
  • Copper-Transporting ATPases
  • Gene Deletion*
  • Humans
  • Infant
  • Male
  • Menkes Kinky Hair Syndrome / genetics*
  • Polymorphism, Single Nucleotide

Substances

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