Kakuda N, Takami M, Okochi M, Kasuga K, Ihara Y, Ikeuchi T. Switched Aβ43 generation in familial Alzheimer's disease with presenilin 1 mutation. Transl Psychiatry. 2021 Nov 3;11(1):558. PubMed.
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Mutations
- PSEN1 A79V
- PSEN1 L85P
- PSEN1 I143T
- PSEN1 M146L (A>C)
- PSEN1 M146L (A>T)
- PSEN1 H163R
- PSEN1 L173F (G>C)
- PSEN1 G206V
- PSEN1 G209R
- PSEN1 I213T
- PSEN1 M233L (A>C)
- PSEN1 M233L (A>T)
- PSEN1 C263F
- PSEN1 E273A
- PSEN1 E280A (Paisa)
- PSEN1 G384A
- PSEN1 A409T
- PSEN1 L381V
- PSEN1 S290_S319delinsC (ΔE9)
- PSEN1 S290_S319delinsC (ΔE9Finn)
- PSEN1 c.869-22_869-23ins18 (ΔE9)
- PSEN1 S290_S319delinsC G>A (ΔE9)
- PSEN1 S290_S319delinsC G>T (ΔE9)
- PSEN1 L286V
- PSEN1 L166P
- PSEN1 L173F (G>T)
- PSEN1 S290_S319delinsC A>G (ΔE9)
- PSEN1 c.856+3089_943+467del (ΔE9)
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