SMN1 E7-E8Del (muscle atrophy) Reference Standard
CBPD0017
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| Introduction | |
| Format | Genomic DNA |
| Description | Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive muscle weakness and atrophy caused by the degeneration of motor neurons in the anterior horn of the spinal cord. The disease is the number one fatal genetic disease in infancy, and it is estimated that there is one case in every 10,000 live births; the carrier rate of the general population is about 1/50, and the carrier rate of the domestic population is about 1/42. |
| Technical Data | |
| Copy number | SMN1 CN=0 |
| SMN2 CN=2 | |
| Definition | SMN1 Loss |
| SMN2 Normal | |
| MLPA Result Graph | |
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| Product Information | |
| Intended Use | Research Use Only |
| Unit Size | 1ug |
| Concentration | Download for COA |
| Purofication | Download for COA |
| DNA electrophoresis | Download for COA |
| Sanger sequencing | Download for COA |
| Storage | 2-8°C |
| Expiry | 36 months from the date of manufacture |
