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Spinal Muscular Atrophy: Advanced Version of Screening System with Real-Time mCOP-PCR and PCR-RFLP for SMN1 Deletion
BACKGROUND: Spinal Muscular Atrophy (SMA) is a common autosomal recessive neuromuscular disease characterized by defects of lower motor neurons. More than 95% of SMA patients show homozygous deletion for the survival motor neuron 1 (SMN1) gene. For the screening of SMN1 deletion using dried blood sp...
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| Published in: | Kobe J Med Sci |
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| Main Authors: | , , , , , , , , , , , , , , |
| Format: | Artigo |
| Language: | Inglês |
| Published: |
Kobe University School Of Medicine
2019
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| Subjects: | |
| Online Access: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7012194/ https://ncbi.nlm.nih.gov/pubmed/31956256 |
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