Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Mutations in PSEN2

Mutation

Exon /
Domain

Citations

1

PSEN2 Thr430Met
   (g.13615C>T)

EX12
TM-IX

Lleo A, 2002
Ezquerra M, 2003

2

PSEN2 Asp439Ala
   (g.13642A>C)

EX12
C-Term

Lleo A, 2001
Lleo A, 2002


Selection: Gene = PSEN2 EX12



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