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首頁(yè) /診斷試劑 /遺傳性基因標準品 /SMA-SMN1/2 /SMN1 (E7-E8) Del SMN2 (E7-E8) Gain Reference Standard-2

SMN1 (E7-E8) Del SMN2 (E7-E8) Gain Reference Standard-2

CBPD0039

產(chǎn)品描述
產(chǎn)品數據庫
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=1
SMN2         CN=5
Definition SMN1         Loss
SMN2         gain
   
MLPA Result Graph 
 
Product Information
Intended Use Research Use Only
Unit Size 1ug
Concentration Download for COA
Purity Download for COA
DNA electrophoresis Download for COA
Sanger sequencing Download for COA
Storage 2-8℃
Expiry 36 months from the date of manufacture

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