Φορτώνει......
Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome
Loss-of-function mutations in SGCE, which encodes ε-sarcoglycan (ε-SG), cause myoclonus--dystonia syndrome (OMIM159900, DYT11). A “major” ε-SG protein derived from CCDS5637.1 (NM_003919.2) and a “brain-specific” protein, that includes sequence derived from alternative exon 11b (CCDS47642.1, NM_00109...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Neurobiol Dis |
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| Κύριοι συγγραφείς: | , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2016
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5283163/ https://ncbi.nlm.nih.gov/pubmed/27890709 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nbd.2016.11.003 |
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