Publications:

A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China.

World Journal Of Pediatrics : Wjp

Yang, Ru-Lai RL; Qian, Gu-Ling GL; Wu, Ding-Wen DW; Miao, Jing-Kun JK; Yang, Xue X; Wu, Ben-Qing BQ; Yan, Ya-Qiong YQ; Li, Hai-Bo HB; Mao, Xin-Mei XM; He, Jun J; Shen, Huan H; Zou, Hui H; Xue, Shu-Yuan SY; Li, Xiao-Ze XZ; Niu, Ting-Ting TT; Xiao, Rui R; Zhao, Zheng-Yan ZY

Publication Date: 2023-02-27

Variant appearance in text: PAH: 871G>A

PubMed Link: 36847978

Variant Present in the following documents:

• 12519_2022_Article_670.pdf

View BVdb publication page

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: 871G>A; Val291Met

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: V291M

PubMed Link: 26503515

Variant Present in the following documents:

• Main text
• srep15769.pdf

View BVdb publication page