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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