Analysis of the genotype-phenotype correlation in patients with phenylketonuria in mainland China

Mutations in the gene encoding phenylalanine hydroxylase (PAH) are associated with various degrees of phenylketonuria (PKU). The aim of our study was to define the genotype-phenotype correlations of mutations in the PAH gene that cause phenylketonuria (PKU) among the Chinese mainland population. Mut...

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Detalles Bibliográficos
Autores principales: Li, Nana, He, Chunhua, Li, Jing, Tao, Jing, Liu, Zhen, Zhang, Chunyan, Yuan, Yuan, Jiang, Hui, Zhu, Jun, Deng, Ying, Guo, Yixiong, Li, Qintong, Yu, Ping, Wang, Yanping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6062512/
https://www.ncbi.nlm.nih.gov/pubmed/30050108
http://dx.doi.org/10.1038/s41598-018-29640-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6062512/
https://www.ncbi.nlm.nih.gov/pubmed/30050108
http://dx.doi.org/10.1038/s41598-018-29640-y

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