Jin SC, Pastor P, Cooper B, Cervantes S, Benitez BA, Razquin C, Goate A, Ibero-American Alzheimer Disease Genetics Group Researchers, Cruchaga C. Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort. Alzheimers Res Ther. 2012 Aug 20;4(4):34. PubMed.

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Mutations

  1. MAPT V224G
  2. MAPT G213R
  3. PSEN1 L173F (G>T)
  4. MAPT S318L
  5. MAPT A297V
  6. MAPT V287I
  7. PSEN1 M139T
  8. MAPT Q230R
  9. PSEN1 E318G
  10. PSEN1 L392V
  11. MAPT A152T