Presenilin 2 Ser130Leu mutation in a case of late-onset "sporadic" Alzheimer's disease

J Neurol. 2007 Mar;254(3):391-3. doi: 10.1007/s00415-006-0373-y. Epub 2007 Mar 7.
No abstract available

Publication types

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

MeSH terms

  • Aged, 80 and over
  • Alzheimer Disease / genetics*
  • Humans
  • Leucine / genetics*
  • Male
  • Mutation*
  • Pedigree
  • Presenilin-2 / genetics*
  • Serine / genetics*

Substances

  • PSEN2 protein, human
  • Presenilin-2
  • Serine
  • Leucine