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Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China

BACKGROUND: Phenylketonuria (PKU), which primarily results from a deficiency of phenylalanine hydroxylase (PAH), is one of the most common inherited inborn errors of metabolism that impairs postnatal cognitive development. The incidence of various PAH variations differs by race and ethnicity. The ai...

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Detalles Bibliográficos
Autores principales:	Liu, Ning, Huang, Qiuying, Li, Qingge, Zhao, Dehua, Li, Xiaole, Cui, Lixia, Bai, Ying, Feng, Yin, Kong, Xiangdong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2017
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5629770/ https://www.ncbi.nlm.nih.gov/pubmed/28982351 http://dx.doi.org/10.1186/s12881-017-0467-7

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