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The frequencies of different genotypes of PAH
| Genotypes | The number of cases(%) |
|---|---|
| R111X | 16 (8%) |
| R176X | 1 (0.5%) |
| Ex6–96A | 33 (16.5%) |
| R241C | 3 (1.5%) |
| R243Q | 54 (27. %) |
| R252Q | 9 (4.5%) |
| Y356X | 26 (13%) |
| V399 V | 21 (10.5%) |
| R413P | 17 (8.5%) |
| Wild-type | 20 (10%) |
| Total | 200 |
