The Thr354Ile substitution in PSEN1:: disease-causing mutation or polymorphism?

Neurology. 2006 Jun 27;66(12):1955-6. doi: 10.1212/01.wnl.0000219762.28324.a6.
No abstract available

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alzheimer Disease / genetics*
  • Genetic Predisposition to Disease / genetics*
  • Heterozygote
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Middle Aged
  • Mutation
  • Polymorphism, Genetic
  • Presenilin-1
  • Threonine / genetics*

Substances

  • Membrane Proteins
  • PSEN1 protein, human
  • Presenilin-1
  • Threonine