Assessment of Spinal Muscular Atrophy Carrier Status by Determining <i>SMN1</i> Copy Number Using Dried Blood Spots
Spinal muscular atrophy (SMA) is a common neuromuscular disease with autosomal recessive inheritance. The disease gene, <i>SMN1</i>, is homozygously deleted in 95% of SMA patients. Although SMA has been an incurable disease, treatment in infancy with newly developed drugs has dramaticall...
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| Main Authors: | , , , , , , , , , , , |
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| Format: | Book |
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MDPI AG,
2020-05-01T00:00:00Z.
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