Predicted pathogenic missense mutation of PGRN found in a normal control

Ann Neurol. 2010 Mar;67(3):415-6. doi: 10.1002/ana.21892.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Comment

MeSH terms

  • Aged
  • Amino Acid Substitution / genetics
  • Causality
  • DNA Mutational Analysis
  • Frontotemporal Lobar Degeneration / ethnology
  • Frontotemporal Lobar Degeneration / genetics*
  • Frontotemporal Lobar Degeneration / metabolism
  • Genetic Markers / genetics*
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing
  • Heterozygote
  • Humans
  • Intercellular Signaling Peptides and Proteins / genetics*
  • Intercellular Signaling Peptides and Proteins / metabolism
  • Male
  • Mutation, Missense / genetics*
  • Neuropsychological Tests
  • Parkinsonian Disorders / genetics
  • Penetrance
  • Progranulins
  • Reproducibility of Results
  • Republic of Korea

Substances

  • GRN protein, human
  • Genetic Markers
  • Intercellular Signaling Peptides and Proteins
  • Progranulins