Development of a Multiplex Real-Time PCR Assay for the Newborn Screening of SCID, SMA, and XLA

Numerous studies have shown evidence supporting the benefits of universal newborn screening for primary immunodeficiencies (PID) and for Spinal Muscular Atrophy (SMA). We have developed a four-plex, real-time PCR assay to screen for Severe Combined Immune Deficiencies (SCID), X-linked agammaglobulin...

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Detalles Bibliográficos
Autores principales: Gutierrez-Mateo, Cristina, Timonen, Anne, Vaahtera, Katja, Jaakkola, Markku, Hougaard, David M, Bybjerg-Grauholm, Jonas, Baekvad-Hansen, Marie, Adamsen, Dea, Filippov, Galina, Dallaire, Stephanie, Goldfarb, David, Schoener, Daniel, Wu, Rongcong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7510252/
https://www.ncbi.nlm.nih.gov/pubmed/33072998
http://dx.doi.org/10.3390/ijns5040039

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7510252/
https://www.ncbi.nlm.nih.gov/pubmed/33072998
http://dx.doi.org/10.3390/ijns5040039

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