Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing

Phenylketonuria (PKU) is an inherited autosomal recessive disorder of phenylalanine metabolism, mainly caused by a deficiency of phenylalanine hydroxylase (PAH). The incidence of various PAH mutations differs among race and ethnicity. Here we report a spectrum of PAH mutations complied from 796 PKU...

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Detalles Bibliográficos
Autores principales: Li, Nana, Jia, Haitao, Liu, Zhen, Tao, Jing, Chen, Song, Li, Xiaohong, Deng, Ying, Jin, Xi, Song, Jiaping, Zhang, Liangtao, Liang, Yu, Wang, Wei, Zhu, Jun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4621502/
https://www.ncbi.nlm.nih.gov/pubmed/26503515
http://dx.doi.org/10.1038/srep15769

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4621502/
https://www.ncbi.nlm.nih.gov/pubmed/26503515
http://dx.doi.org/10.1038/srep15769

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