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Table 2 Exon Distribution and allelic frequencies of PAH gene

From: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China

Location (exon + intron)

No. of mutation kinds

No. of mutation allele

Frequency of mutation allele(%)

 1

2

3

0.24

 2

6

66

5.2

 3

13

134

10.48

 4

7

54

4.33

 5

18

56

4.41

 6

24

166

13.24

 7

34

423

33.25

 8

6

8

0.63

 9

5

10

0.79

 10

16

26

2.05

 11

21

183

14.18

 12

17

138

11.03

 13

2

2

0.16