Carrier frequency of the R778L, A874V, and N1270S mutations in the ATP7B gene in a Korean population

Clin Genet. 2009 Apr;75(4):405-7. doi: 10.1111/j.1399-0004.2008.01132.x.
No abstract available

Publication types

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

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Cation Transport Proteins / genetics*
  • Copper-Transporting ATPases
  • Gene Frequency
  • Hepatolenticular Degeneration / epidemiology
  • Hepatolenticular Degeneration / genetics
  • Heterozygote*
  • Humans
  • Korea / epidemiology
  • Mutation, Missense*

Substances

  • Cation Transport Proteins
  • Adenosine Triphosphatases
  • ATP7B protein, human
  • Copper-Transporting ATPases