A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism

BACKGROUND: Tandem mass spectrometry (MS MS) and simple fluorometric assays are currently used in newborn screening programs to detect inborn errors of metabolism (IEM). The aim of the study was to evaluate the clinical utility of exome sequencing as a second tier screening method to assist clinical...

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Detalles Bibliográficos
Autores principales: Wang, Wenjie, Yang, Jianping, Xue, Jinjie, Mu, Wenjuan, Zhang, Xiaogang, Wu, Wang, Xu, Mengnan, Gong, Yuyan, Liu, Yiqian, Zhang, Yu, Xie, Xiaobing, Gu, Weiyue, Bai, Jigeng, Cram, David S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6322297/
https://www.ncbi.nlm.nih.gov/pubmed/30612563
http://dx.doi.org/10.1186/s12881-018-0731-5

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