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Table 1 Gene diagnosis rate of PKU patients

From: The spectrum of phenylalanine hydroxylase variants and genotype–phenotype correlation in phenylketonuria patients in Gansu, China

Classification

Patient number

Number of genetic diagnoses

Proportion of genetic diagnoses (%)

MHP

157

141

89.81

mPKU

403

395

98.01

cPKU

407

407

100

Total

967

943

97.52