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codon
2 studies tagged codon, dated 2004-02-01 to 2013-10-24. Bibliography: BibTeX (.bib) · RIS (.ris)
Newest in this topic
- Autosomal-dominant Alzheimer's disease mutations at the same codon of amyloid precursor protein differentially alter Aβ production 2013-10-24
- A novel highly pathogenic Alzheimer presenilin-1 mutation in codon 117 (Pro117Ser): Comparison of clinical, neuropathological and cell culture phenotypes of Pro117Leu and Pro117Ser mutations 2004-02-01
Studies
2 studies carry this tag.
Date range
2004 to 2013
Top journals
- Journal of Alzheimer's disease : JAD 1
- Journal of neurochemistry 1
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Autosomal-dominant Alzheimer's disease (ADAD) is a genetic disorder caused by mutations in Amyloid Precursor Protein (APP) or Presenilin (PSEN) genes.
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A novel presenilin-1 (PS1) mutation (P117S) in an American pedigree is described.