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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Vydáno v:Ann Transl Med
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: AME Publishing Company 2019
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Original Article
On-line přístup: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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