A multi-exon-skipping detection assay reveals surprising diversity of splice isoforms of spinal muscular atrophy genes.
Humans have two near identical copies of Survival Motor Neuron gene: SMN1 and SMN2. Loss of SMN1 coupled with the predominant skipping of SMN2 exon 7 causes spinal muscular atrophy (SMA), a neurodegenerative disease. SMA patient cells devoid of SMN1 provide a powerful system to examine splicing patt...
| প্রধান লেখক: | , , , |
|---|---|
| বিন্যাস: | প্রবন্ধ |
| ভাষা: | English |
| প্রকাশিত: |
Public Library of Science (PLoS)
2012-01-01
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| মালা: | PLoS ONE |
| অনলাইন ব্যবহার করুন: | http://europepmc.org/articles/PMC3501452?pdf=render |