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

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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Bibliographic Details
Main Authors: Cristina Gutierrez-Mateo, Anne Timonen, Katja Vaahtera, Markku Jaakkola, David M Hougaard, Jonas Bybjerg-Grauholm, Marie Baekvad-Hansen, Dea Adamsen, Galina Filippov, Stephanie Dallaire, David Goldfarb, Daniel Schoener, Rongcong Wu
Format: Article
Language:English
Published: MDPI AG 2019-11-01
Series:International Journal of Neonatal Screening
Subjects:
newborn screening
scid
sma
xla
dbs
real-time pcr
trec
krec
smn1
Online Access:https://www.mdpi.com/2409-515X/5/4/39

Internet

https://www.mdpi.com/2409-515X/5/4/39

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