Timely diagnosis of Wilson's disease using whole exome sequencing

Parkinsonism Relat Disord. 2015 Nov;21(11):1375-7. doi: 10.1016/j.parkreldis.2015.09.031. Epub 2015 Sep 25.
No abstract available

Publication types

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

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Adult
  • Cation Transport Proteins / genetics*
  • Copper-Transporting ATPases
  • Exome
  • Female
  • Hepatolenticular Degeneration / diagnosis*
  • Hepatolenticular Degeneration / genetics
  • Humans

Substances

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