Campion D, Dumanchin C, Hannequin D, Dubois B, Belliard S, Puel M, Thomas-Anterion C, Michon A, Martin C, Charbonnier F, Raux G, Camuzat A, Penet C, Mesnage V, Martinez M, Clerget-Darpoux F, Brice A, Frebourg T. Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. Am J Hum Genet. 1999 Sep;65(3):664-70. PubMed.

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Mutations

  1. PSEN1 T147I
  2. PSEN1 W165C (G>C)
  3. PSEN1 L173W
  4. PSEN1 S390I
  5. PSEN1 L392V
  6. PSEN1 Y115H
  7. PSEN1 E120D (A>C)
  8. PSEN1 M139T
  9. PSEN1 M146L (A>C)
  10. PSEN1 M233T
  11. PSEN1 L235P
  12. PSEN1 P264L
  13. PSEN1 C410Y