Jia L, Fu Y, Shen L, Zhang H, Zhu M, Qiu Q, Wang Q, Yan X, Kong C, Hao J, Wei C, Tang Y, Qin W, Li Y, Wang F, Guo D, Zhou A, Zuo X, Yu Y, Li D, Zhao L, Jin H, Jia J. PSEN1, PSEN2, and APP mutations in 404 Chinese pedigrees with familial Alzheimer's disease. Alzheimers Dement. 2020 Jan;16(1):178-191. PubMed.
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Mutations
- PSEN2 P287P
- PSEN1 N24S
- PSEN1 I100F
- PSEN1 P117T
- PSEN1 H131Q
- PSEN1 L172W
- PSEN2 c.*71C>A
- PSEN1 G78G
- PSEN1 V151V
- PSEN1 P218P
- PSEN1 T281T
- PSEN1 c.*9C>T
- PSEN2 G34S
- PSEN1 V97L
- PSEN1 F105I
- PSEN1 F105L
- PSEN1 M139V
- PSEN1 M146V
- PSEN1 H163R
- PSEN1 L173F (G>C)
- PSEN1 G206A
- PSEN1 I213T
- PSEN1 L282V
- PSEN2 R62H
- APP G708G
- PSEN2 V214L
- PSEN1 K311R
- PSEN1 R157S
- PSEN1 L173S
- PSEN1 G111V
- PSEN2 S236S
- PSEN2 M298T
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