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Use of Molecular Genetic Analyses in Danish Routine Newborn Screening

Historically, the analyses used for newborn screening (NBS) were biochemical, but increasingly, molecular genetic analyses are being introduced in the workflow. We describe the application of molecular genetic analyses in the Danish NBS programme and show that second-tier molecular genetic testing i...

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Detalles Bibliográficos
Autores principales: Lund, Allan Meldgaard, Wibrand, Flemming, Skogstrand, Kristin, Bækvad-Hansen, Marie, Gregersen, Niels, Andresen, Brage Storstein, Hougaard, David M., Dunø, Morten, Olsen, Rikke Katrine Jentoft
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8395600/
https://www.ncbi.nlm.nih.gov/pubmed/34449524
http://dx.doi.org/10.3390/ijns7030050

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