Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: genotype

Clin Genet. 2005 May;67(5):443-5. doi: 10.1111/j.1399-0004.2005.00440.x.
No abstract available

Publication types

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

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Cation Transport Proteins / genetics*
  • Copper / blood
  • Copper-Transporting ATPases
  • DNA Mutational Analysis
  • Exons
  • Genotype
  • Hepatolenticular Degeneration / genetics*
  • Humans
  • India
  • Phenotype

Substances

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