 |
 Presenilin-1 Mutations Table
Mutation: E120
E120D
E120D2
E120K
|
|
| Mutation: E120D |
| Base Change: |
 |
|
gaA-->gaT |
| Family: |
|
|
? |
| Onset Ages: |
|
|
48 years |
| Ethnic Origin: |
|
|
Ashkenazi Jewish |
| Restriction Sites: |
|
|
Mbo II(wild-type) |
| References: |
|
|
Reznik-Wolf et al. 1996 |
|
|
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|
|
| Mutation: E120D2 |
| Base Change: |
|
|
gaA-->gaC |
| Family: |
|
|
V |
| Onset Ages: |
|
|
41-53 years |
| Ethnic Origin: |
|
|
British(?) |
| Restriction Sites: |
|
|
Mbo II(wild-type) |
| References: |
|
|
Poorkaj et al. 1998 |
|
|
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|
|
| Mutation: E120K |
| Base Change: |
|
|
Gaa-->Aaa |
| Family: |
|
|
F121 |
| Onset Ages: |
|
|
32-39 years |
| Ethnic Origin: |
|
|
Caucasian |
| Restriction Sites: |
|
|
NA |
| References: |
|
|
Hutton et al. 1996 |
|
|
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