The molecular epidemiology of hyperphenylalaninemia in Uygur population: incidence from newborn screening and mutational spectra

BACKGROUND: Neonatal hyperphenylalaninemia (HPA) screening did not begin until 2009 in the Uygur population because of poor medical and economic conditions. This study intended to investigate HPA incidence rate and characterize mutation spectrum of phenylalanine hydroxylase (PAH) gene within the Uyg...

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Publicado en:Ann Transl Med
Autores principales: Su, Yajie, Wang, Huijun, Rejiafu, Nuerya, Wu, Bingbing, Jiang, Haili, Chen, Hongbo, A, Xian, Qian, Yanyan, Li, Mingzhu, Lu, Yulan, Ren, Yan, Li, Long, Zhou, Wenhao
Formato: Artigo
Lenguaje:Inglês
Publicado: AME Publishing Company 2019
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Original Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6614323/
https://ncbi.nlm.nih.gov/pubmed/31355225
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2019.05.16
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