Kits for diagnosing spinal muscular atrophy and uses thereof
Abstract:
Disclosed herein is a kit for diagnosing spinal muscular atrophy (SMA) in a human subject based on the copy numbers of exons 7 and 8 of SMN1 gene and the copy numbers of exons 7 and 8 of SMN2 gene in a DNA sample isolated from the human subject. Also disclosed herein are methods of diagnosing SMA by use of the present kit, and methods of treating SMA based on the diagnostic result.
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