Publications:

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

Bmc Medical Genetics

Liu, Ning N; Huang, Qiuying Q; Li, Qingge Q; Zhao, Dehua D; Li, Xiaole X; Cui, Lixia L; Bai, Ying Y; Feng, Yin Y; Kong, Xiangdong X

Publication Date: 2018-01-09

Variant appearance in text: PAH: 1071C>A; Cys357*

PubMed Link: 29316886

Variant Present in the following documents:

• 12881_2017_Article_516.pdf

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The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients.

Scientific Reports

Zhu, Tianwen T; Ye, Jun J; Han, Lianshu L; Qiu, Wenjuan W; Zhang, Huiwen H; Liang, Lili L; Gu, Xuefan X

Publication Date: 2017-07-28

Variant appearance in text: PAH: Cys357*

PubMed Link: 28754886

Variant Present in the following documents:

• Main text
• 41598_2017_Article_6462.pdf

View BVdb publication page