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Development of a mutation hotspot detection kit for the phenylalanine hydroxylase gene by ARMS-PCR combined with fluorescent probe technology

To develop a screening kit for detecting mutation hotspots of the phenylalanine hydroxylase (PAH) gene. Thirteen exons of the PAH gene were sequenced in 84 cases with phenylketonuria (PKU) diagnosed during neonatal genetic and metabolic disease screening in Shaanxi province, and their mutations were...

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Detalles Bibliográficos
Autores principales:	Qiang, Rong, Wang, Lin, He, JinHua, Xu, Wei Jie, Li, Wei, Cai, Na, Wang, Xiao Bin, Zhang, RuiXue, Zhang, Li Ping, Ma, Xiao Ping, Wei, Chen, Song, ChengRong, Yu, WenWen, Wang, Xiang, Li, Xu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Portland Press Ltd. 2021
Materias:	Diagnostics & Biomarkers
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7897920/ https://www.ncbi.nlm.nih.gov/pubmed/33564846 http://dx.doi.org/10.1042/BSR20201660

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