Clinical utility gene card for: Menkes disease

Eur J Hum Genet. 2011 Oct;19(10). doi: 10.1038/ejhg.2011.56. Epub 2011 Apr 13.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Cation Transport Proteins / genetics*
  • Copper / metabolism
  • Copper-Transporting ATPases
  • Female
  • Genetic Carrier Screening
  • Genetic Diseases, X-Linked / diagnosis
  • Genetic Diseases, X-Linked / genetics
  • Genetic Diseases, X-Linked / physiopathology
  • Genetic Testing
  • Humans
  • Infant
  • Male
  • Menkes Kinky Hair Syndrome / diagnosis*
  • Menkes Kinky Hair Syndrome / genetics*
  • Menkes Kinky Hair Syndrome / physiopathology
  • Mutation*
  • Sensitivity and Specificity

Substances

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