Familial cases presenting very early onset autosomal dominant Alzheimer's disease with I143T in presenilin-1 gene: implication for genotype-phenotype correlation

Neurogenetics. 2008 Feb;9(1):65-7. doi: 10.1007/s10048-007-0104-2. Epub 2007 Oct 30.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Age of Onset
  • Alzheimer Disease / genetics*
  • Amino Acid Substitution
  • DNA Mutational Analysis
  • Erythromycin Ethylsuccinate
  • Female
  • Genes, Dominant
  • Genotype
  • Humans
  • Japan
  • Male
  • Mutation, Missense*
  • Oligonucleotide Array Sequence Analysis
  • Phenotype
  • Presenilin-1 / genetics*

Substances

  • PSEN1 protein, human
  • Presenilin-1
  • Erythromycin Ethylsuccinate