Screening for POLG W748S and A467T mutations in ataxia patients from Spain

Mov Disord. 2012 Sep 1;27(10):1326. doi: 10.1002/mds.25085. Epub 2012 Jun 18.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Alanine / genetics
  • Ataxia / epidemiology
  • Ataxia / genetics*
  • DNA Polymerase gamma
  • DNA-Directed DNA Polymerase / genetics*
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing / methods
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Polymorphism, Single Nucleotide / genetics*
  • Serine / genetics
  • Spain / epidemiology
  • Threonine / genetics
  • Tryptophan / genetics
  • Young Adult

Substances

  • Threonine
  • Serine
  • Tryptophan
  • DNA Polymerase gamma
  • DNA-Directed DNA Polymerase
  • POLG protein, human
  • Alanine