Janssen JC, Beck JA, Campbell TA, Dickinson A, Fox NC, Harvey RJ, Houlden H, Rossor MN, Collinge J. Early onset familial Alzheimer's disease: Mutation frequency in 31 families. Neurology. 2003 Jan 28;60(2):235-9. PubMed.

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Mutations

  1. APP H677R (English)
  2. PSEN1 Y154C
  3. PSEN1 I229F
  4. PSEN1 L235V
  5. PSEN1 F237L
  6. PSEN1 C263F
  7. PSEN1 R377M
  8. PSEN1 G378V
  9. PSEN1 I168del (TATdel)
  10. PSEN1 Y115C
  11. PSEN1 M146I (G>A)
  12. PSEN1 L171P
  13. PSEN1 E184D
  14. PSEN1 A260V
  15. PSEN1 R269H
  16. PSEN1 L113_I114insT (Intron 4)

News

  1. Good Gene, Bad Gene?—New APP Variant May Be Both