Publications:

A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population.

Npj Genomic Medicine

Hu, Ping P; Tan, Jianxin J; Yu, Feng F; Shao, Binbin B; Zhang, Fang F; Zhang, Jingjing J; Lin, Yingchun Y; Tao, Tao T; Jiang, Lili L; Jiang, Zhengwen Z; Xu, Zhengfeng Z

Publication Date: 2022-01-25

Variant appearance in text: PAH: 494C>A

PubMed Link: 35079019

Variant Present in the following documents:

• 41525_2021_280_MOESM1_ESM.pdf

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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: 494C>A; Ala165Asp

PubMed Link: 29316886

Variant Present in the following documents:

• 12881_2017_Article_516.pdf

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Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.

Scientific Reports

Li, Nana N; Jia, Haitao H; Liu, Zhen Z; Tao, Jing J; Chen, Song S; Li, Xiaohong X; Deng, Ying Y; Jin, Xi X; Song, Jiaping J; Zhang, Liangtao L; Liang, Yu Y; Wang, Wei W; Zhu, Jun J

Publication Date: 2015-10-27

Variant appearance in text: PAH: A165D

PubMed Link: 26503515

Variant Present in the following documents:

• Main text

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Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria.

Pediatric Research

Tao, Jing J; Li, Nana N; Jia, Haitao H; Liu, Zhen Z; Li, Xiaohong X; Song, Jiaping J; Deng, Ying Y; Jin, Xi X; Zhu, Jun J

Publication Date: 2015-12

Variant appearance in text: PAH: 494C>A; A165D

PubMed Link: 26322415

Variant Present in the following documents:

• pr2015167a.pdf

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