A next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic diseases

The range of applications performed on dried blood spots (DBS) widely broadened during the past decades to now include next-generation sequencing (NGS). Previous publications provided a general overview of NGS capacities on DBS-extracted DNA but did not focus on the identification of specific disord...

Descripción completa

Detalles Bibliográficos
Autores principales: Boemer, F., Fasquelle, C., d’Otreppe, S., Josse, C., Dideberg, V., Segers, K., Guissard, V., Capraro, V., Debray, FG., Bours, V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5732277/
https://www.ncbi.nlm.nih.gov/pubmed/29247206
http://dx.doi.org/10.1038/s41598-017-18038-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5732277/
https://www.ncbi.nlm.nih.gov/pubmed/29247206
http://dx.doi.org/10.1038/s41598-017-18038-x

Ejemplares similares