Mutation |
# |
% |
Non-PKU hyperphenylalanemia |
19 |
- |
Phenylketonuria (PKU) |
47 |
100 |
Splice-site
mutations |
7 |
14 |
Deletion
mutations, including: |
12 |
|
Complete
exon |
1 |
|
Single
triplet |
2 |
|
Five
triplets |
1 |
|
Frame shift premature termination |
2 |
|
Non-sense
mutations |
9 |
18 |
Miss-sense mutations |
27 |
55 |