Screening of PAH Common Mutations in Chinese Phenylketonuria Patients Using iPLEX MALDI-TOF MS

[Image: see text] Phenylketonuria (PKU) is caused by phenylalanine hydroxylase (PAH) gene variants. Previous research has identified some PAH mutation hotspots in Chinese patients with PKU. In this study, we introduce a novel MassArray panel for screening the 29 common PAH gene mutations in Chinese...

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Detalles Bibliográficos
Autores principales: Yan, Yousheng, Jin, Xiaohua, Wang, Xing, Zhang, Chuan, Zhang, Qinhua, Zheng, Lei, Feng, Xuan, Hao, Shengju, Gao, Huafang, Ma, Xu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Chemical Society 2020
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7003239/
https://www.ncbi.nlm.nih.gov/pubmed/32039316
http://dx.doi.org/10.1021/acsomega.9b02955

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7003239/
https://www.ncbi.nlm.nih.gov/pubmed/32039316
http://dx.doi.org/10.1021/acsomega.9b02955

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