Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency

Severe combined immunodeficiency (SCID) and other T cell lymphopenias can be detected during newborn screening (NBS) by measuring T cell receptor excision circles (TRECs) in dried blood spot (DBS) DNA. Second tier next generation sequencing (NGS) with an amplicon based targeted gene panel using the...

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Detalles Bibliográficos
Autores principales: Strand, Janne, Gul, Kiran Aftab, Erichsen, Hans Christian, Lundman, Emma, Berge, Mona C., Trømborg, Anette K., Sørgjerd, Linda K., Ytre-Arne, Mari, Hogner, Silje, Halsne, Ruth, Gaup, Hege Junita, Osnes, Liv T., Kro, Grete A. B., Sorte, Hanne S., Mørkrid, Lars, Rowe, Alexander D., Tangeraas, Trine, Jørgensen, Jens V., Alme, Charlotte, Bjørndalen, Trude E. H., Rønnestad, Arild E., Lang, Astri M., Rootwelt, Terje, Buechner, Jochen, Øverland, Torstein, Abrahamsen, Tore G., Pettersen, Rolf D., Stray-Pedersen, Asbjørg
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7381310/
https://www.ncbi.nlm.nih.gov/pubmed/32754152
http://dx.doi.org/10.3389/fimmu.2020.01417

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