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Presenilin-1 Mutations Table
Mutation: E280
E280A
E280G
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| Mutation: E280A |
| Base Change: |
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gAa-->gCa |
| Families: |
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C1,2,3,4,5,8,12, |
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F771, FAD-Ok, COL |
| Onset Ages: |
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50,47,52,52,47,52, |
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42, 45, 57, 47 years |
| Ethnic Origin: |
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Colombian & Japanese |
| Restriction Sites: |
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NA |
| References: |
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Clark et al. 1995, |
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Tanahashi 1996, |
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Kwok et al. 1997 |
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| Mutation: E280G |
| Base Change: |
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gAa-->gGa |
| Families: |
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F168, F183 |
| Onset Ages: |
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39-42, 42-45 years |
| Ethnic Origin: |
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Caucasian |
| Restriction Sites: |
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NA |
| References: |
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Clark et al. 1995, |
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Hutton et al. 1996 |
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