Screening of Neonatal UK Dried Blood Spots Using a Duplex SMN1 Screening Assay

Screening of Neonatal UK Dried Blood Spots Using a Duplex SMN1 Screening Assay

Spinal muscular atrophy (SMA) is an autosomal inherited neuromuscular genetic disease caused, in 95% of cases, by homozygous deletions involving the <i>SMN1</i> gene exon 7. It remains the leading cause of death in children under 2 years of age. New treatments have been developed and ado...

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Bibliographic Details
Main Authors: Stuart P. Adams, Emma Gravett, Natalie Kent, Susanne Kricke, Adeboye Ifederu, Mariacristina Scoto, Salma Samsuddin, Francesco Muntoni
Format: Article
Language:English
Published: MDPI AG 2021-10-01
Series:International Journal of Neonatal Screening
Subjects:
spinal muscular atrophy
SMA
<i>SMN1</i>
newborn screening
NBS
dried blood spot
Online Access:https://www.mdpi.com/2409-515X/7/4/69

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