Table 4 The frequencies of different genotypes of PAH
From: Rapid detection of PAH gene mutations in Chinese people
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 |