Publications:

Identification of phenylketonuria patient genotypes using single-gene full-length sequencing.

Human Genomics

Gao, Jinshuang J; Li, Xiaole X; Guo, Yaqing Y; Yu, Haiyang H; Song, Liying L; Fang, Yang Y; Yuan, Erfeng E; Shi, Qianqian Q; Zhao, Dehua D; Yuan, Enwu E; Zhang, Linlin L

Publication Date: 2022-07-22

Variant appearance in text: PAH: Gln160Ter

PubMed Link: 35869558

Variant Present in the following documents:

• Main text
• 40246_2022_Article_397.pdf

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Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.

European Journal Of Human Genetics : Ejhg

Zhao, Sumin S; Xiang, Jiale J; Fan, Chunna C; Asan, ; Shang, Xuan X; Zhang, Xinhua X; Chen, Yan Y; Zhu, Baosheng B; Cai, Wangwei W; Chen, Shaoke S; Cai, Ren R; Guo, Xiaoling X; Zhang, Chonglin C; Zhou, Yuqiu Y; Huang, Shuodan S; Liu, Yanhui Y; Chen, Biyan B; Yan, Shanhuo S; Chen, Yajun Y; Ding, Hongmei H; Guo, Fengyu F; Wang, Yaoshen Y; Zhong, Wenwei W; Zhu, Yaping Y; Wang, Yaling Y; Chen, Chao C; Li, Yun Y; Huang, Hui H; Mao, Mao M; Yin, Ye Y; Wang, Jian J; Yang, Huanming H; Xu, Xiangmin X; Sun, Jun J; Peng, Zhiyu Z

Publication Date: 2019-02

Variant appearance in text: PAH: 478C>T

PubMed Link: 30275481

Variant Present in the following documents:

• 41431_2018_253_MOESM10_ESM.xlsx, sheet 1

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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: 478C>T; Gln160*

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: Q160*

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: 478C>T; Q160*

PubMed Link: 26322415

Variant Present in the following documents:

• pr2015167a.pdf

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