Characterization of phenylalanine hydroxylase gene mutations in phenylketonuria in Xinjiang of China

To investigate the spectrum and frequency of phenylalanine hydroxylase (PAH) gene mutations in phenylketonuria (PKU) patients in Xinjiang, China. Polymerase chain reaction (PCR), in combination with single-strand conformation polymorphism (SSCP) and DNA sequencing analyses were performed, to screen...

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Detalhes bibliográficos
Publicado no:Int J Clin Exp Med
Main Authors: Yu, Wuzhong, He, Jiang, Yang, Xi, Zou, Hongyun, Gui, Junhao, Wang, Rui, Yang, Liu, Wang, Zheng, Lei, Quan
Formato: Artigo
Idioma:Inglês
Publicado em: e-Century Publishing Corporation 2014
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4276219/
https://ncbi.nlm.nih.gov/pubmed/25550961
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