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A novel human-specific splice isoform alters the critical C-terminus of Survival Motor Neuron protein
Spinal muscular atrophy (SMA), a leading genetic disease of children and infants, is caused by mutations or deletions of Survival Motor Neuron 1 (SMN1) gene. SMN2, a nearly identical copy of SMN1, fails to compensate for the loss of SMN1 due to skipping of exon 7. SMN2 predominantly produces SMNΔ7,...
Gorde:
| Argitaratua izan da: | Sci Rep |
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| Egile Nagusiak: | , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Nature Publishing Group
2016
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4969610/ https://ncbi.nlm.nih.gov/pubmed/27481219 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep30778 |
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