D216H polymorphism within TOR1A does not affect penetrance in DRD and is not a general modifier in primary dystonia

Mov Disord. 2011 Jan;26(1):182-3. doi: 10.1002/mds.23238. Epub 2010 Nov 16.
No abstract available

Publication types

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

MeSH terms

  • Aspartic Acid / genetics*
  • Dystonic Disorders / genetics
  • Family Health
  • Female
  • Gene Frequency
  • Histidine / genetics*
  • Humans
  • Male
  • Molecular Chaperones / genetics*
  • Penetrance*
  • Polymorphism, Genetic / genetics*

Substances

  • Molecular Chaperones
  • TOR1A protein, human
  • Aspartic Acid
  • Histidine

Supplementary concepts

  • Dystonia, Dopa-responsive