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Autosomal Dominant Alzheimer Disease Mutations
| PSEN1 (n = 46) | ||
| A79V (5 cases) | I143T (2 cases) | M233L (2 cases) |
| Y115C (2 cases) | M146L (2 cases) | L235V |
| Y115H | Y156insFI | T245P (2 cases) |
| E120D | H163R (4 cases) | V261F |
| N135D | S170F | P267Aa |
| N135S (2 cases) | G206A (6 cases) | A431E (6 cases) |
| M139I | G209V | L435F |
| M139V | L226R | |
| APP (n = 10) | ||
| E693G | V717I (3 cases) | |
| V717F (4 cases) | V717L (2 cases) | |
| PSEN2 (n = 4) | ||
| N141I (4 cases) |
Novel PSEN1 mutation.
