[A novel mutation in ATP7B gene associated with severe neurological impairment in Wilson's disease]

Rev Neurol (Paris). 2010 May;166(5):550-2. doi: 10.1016/j.neurol.2009.10.008. Epub 2009 Dec 29.
[Article in French]
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Adolescent
  • Cation Transport Proteins / genetics*
  • Caudate Nucleus / pathology
  • Copper-Transporting ATPases
  • DNA / genetics
  • Hepatolenticular Degeneration / genetics*
  • Hepatolenticular Degeneration / pathology*
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Mutation / genetics*
  • Nervous System Diseases / genetics*
  • Nervous System Diseases / pathology*
  • Pedigree

Substances

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