COMMD1 (MURR1) as a candidate in patients with copper storage disease of undefined etiology

Clin Genet. 2005 Dec;68(6):548-51. doi: 10.1111/j.1399-0004.2005.00524.x.
No abstract available

Publication types

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

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Adenosine Triphosphatases / genetics
  • Carrier Proteins
  • Cation Transport Proteins / genetics
  • Copper / metabolism*
  • Copper-Transporting ATPases
  • DNA Mutational Analysis
  • Genetic Testing / methods*
  • Haplotypes / genetics
  • Hepatolenticular Degeneration / genetics
  • Humans
  • Metabolic Diseases / genetics*
  • Metabolic Diseases / metabolism
  • Pedigree
  • Phenotype*
  • Proteins / genetics*
  • Sequence Analysis, DNA

Substances

  • Adaptor Proteins, Signal Transducing
  • COMMD1 protein, human
  • Carrier Proteins
  • Cation Transport Proteins
  • Proteins
  • Copper
  • Adenosine Triphosphatases
  • Copper-Transporting ATPases