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...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2021-10-01
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| Series: | International Journal of Neonatal Screening |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2409-515X/7/4/69 |