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Assessment of Spinal Muscular Atrophy Carrier Status by Determining SMN1 Copy Number Using Dried Blood Spots
Spinal muscular atrophy (SMA) is a common neuromuscular disease with autosomal recessive inheritance. The disease gene, SMN1, is homozygously deleted in 95% of SMA patients. Although SMA has been an incurable disease, treatment in infancy with newly developed drugs has dramatically improved the dise...
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| Gepubliceerd in: | Int J Neonatal Screen |
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| Hoofdauteurs: | , , , , , , , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
MDPI
2020
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7423012/ https://ncbi.nlm.nih.gov/pubmed/33073034 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijns6020043 |
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