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Application of Next-Generation Sequencing Following Tandem Mass Spectrometry to Expand Newborn Screening for Inborn Errors of Metabolism: A Multicenter Study

This study explored the effectiveness of expanding newborn screening (NBS) by tandem mass spectrometry (TMS) and gene diagnosis by next-generation sequencing (NGS). First, we described the characteristics of gene variants in Jiangsu Province. We collected clinical data from three NBS centers. All in...

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Detalles Bibliográficos
Autores principales:	Yang, Yuqi, Wang, Leilei, Wang, Benjing, Liu, Shuang, Yu, Bin, Wang, Ting
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2019
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6382741/ https://www.ncbi.nlm.nih.gov/pubmed/30838026 http://dx.doi.org/10.3389/fgene.2019.00086

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