Targeted next generation sequencing for newborn screening of Menkes disease

PURPOSE: Population-based newborn screening (NBS) allows early detection and treatment of inherited disorders. For certain medically-actionable conditions, however, NBS is limited by the absence of reliable biochemical signatures amenable to detection by current platforms. We sought to assess the an...

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Detalles Bibliográficos
Autores principales: Parad, Richard B., Kaler, Stephen G., Mauceli, Evan, Sokolsky, Tanya, Yi, Ling, Bhattacharjee, Arindam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7378272/
https://www.ncbi.nlm.nih.gov/pubmed/32714836
http://dx.doi.org/10.1016/j.ymgmr.2020.100625

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7378272/
https://www.ncbi.nlm.nih.gov/pubmed/32714836
http://dx.doi.org/10.1016/j.ymgmr.2020.100625

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