Publications:

Mutation spectrum of PTS gene in patients with tetrahydrobiopterin deficiency from jiangxi province.

Frontiers In Genetics

Xie, Kang K; Zeng, Baitao B; Zhang, Liuyang L; Chen, Shaohong S; Zou, Yongyi Y; Yuan, Huizhen H; Huang, Shuhui S; Wang, Feng F; Lu, Qing Q; Liu, Yanqiu Y; Yang, Bicheng B

Publication Date: 2022

Variant appearance in text: PTS: 331G>A

PubMed Link: 36583021

Variant Present in the following documents:

• Main text
• fgene-13-1077729.pdf

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Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients.

Jimd Reports

Khatami, Shohreh S; Dehnabeh, Soghra Rouhi SR; Zeinali, Sirous S; Thöny, Beat B; Alaei, Mohammadreza M; Salehpour, Shadab S; Setoodeh, Aria A; Rohani, Farzaneh F; Hajivalizadeh, Fatemeh F; Samavat, Ashraf A

Publication Date: 2017

Variant appearance in text: PTPS: 331G>A

PubMed Link: 27246466

Variant Present in the following documents:

• Main text

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