A novel presenilin 1 mutation (L282F) in familial Alzheimer's disease

J Neurol. 2009 Sep;256(9):1575-7. doi: 10.1007/s00415-009-5154-y. Epub 2009 May 9.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Alzheimer Disease / genetics*
  • Base Sequence
  • Dementia / genetics
  • Female
  • Humans
  • Middle Aged
  • Mutation, Missense*
  • Pedigree
  • Presenilin-1 / genetics*
  • Sequence Analysis, DNA

Substances

  • PSEN1 protein, human
  • Presenilin-1