Rapid detection of PAH gene mutations in Chinese people

BACKGROUND: Phenylketonuria (PKU) is an autosomal recessive genetic disease, caused by the phenylalanine hydroxylase (PAH) deficiency in the metabolic pathway, which prevents phenylalanine from being converted into tyrosine, leading to a large amount of phenylalanine discharged from the urine. There...

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Detalles Bibliográficos
Autores principales: Zhang, Xin, Chen, Huan-Xin, Li, Chuan, Zhang, Gui, Liao, Sheng-Yun, Peng, Zhuo-chun, Lai, Xiao-Ping, Wang, Ling-Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6683507/
https://www.ncbi.nlm.nih.gov/pubmed/31382905
http://dx.doi.org/10.1186/s12881-019-0860-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6683507/
https://www.ncbi.nlm.nih.gov/pubmed/31382905
http://dx.doi.org/10.1186/s12881-019-0860-5

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