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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| Main Authors: | , , , , , , , |
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| Format: | Book |
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MDPI AG,
2021-10-01T00:00:00Z.
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