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Mutation Spectrum of Six Genes in Chinese Phenylketonuria Patients Obtained through Next-Generation Sequencing

BACKGROUND: The identification of gene variants plays an important role in the diagnosis of genetic diseases. METHODOLOGY/PRINCIPAL FINDINGS: To develop a rapid method for the diagnosis of phenylketonuria (PKU) and tetrahydrobiopterin (BH4) deficiency, we designed a multiplex, PCR-based primer panel...

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Detalles Bibliográficos
Autores principales:	Gu, Ying, Lu, Kangmo, Yang, Guanghui, Cen, Zhong, Yu, Li, Lin, Lin, Hao, Jing, Yang, Zhigang, Peng, Jiabao, Cui, Shujian, Huang, Jian
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2014
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3976377/ https://www.ncbi.nlm.nih.gov/pubmed/24705691 http://dx.doi.org/10.1371/journal.pone.0094100

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