Skip to main content

Table 7 Distribution of variation sites in PKU patients with homozygous variation

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

PKU classification

Variant

Patient number

MHP

c.721C > T

1

 

c.158G > A

1

mPKU

c.842 + 2T > A

2

 

c.728G > A

13

 

c.721C > T

2

 

c.611A > G

1

 

c.498C > G

1

 

c.442-1G > A

2

 

c.208_c.210delTCT

2

 

c.194T > A

2

 

c.1289T > C

1

 

c.1197A > T

2

cPKU

EX3del

1

 

EX1-2del

1

 

EX1-1del

1

 

c.782G > A

1

 

c.764T > C

1

 

c.740G > T

1

 

c.728G > A

17

 

c.665A > G

1

 

c.442-1G > A

3

 

c.331C > T

1

 

c.1238G > C

2

 

c.1222C > T

1

 

c.1199G > C

1

 

c.1197A > T

2

Back to article page

Human Genomics

ISSN: 1479-7364