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How the discovery of ISS-N1 led to the first medical therapy for spinal muscular atrophy
Spinal muscular atrophy (SMA), a prominent genetic disease of infant mortality, is caused by low levels of survival motor neuron (SMN) protein owing to deletions or mutations of the SMN1 gene. SMN2, a nearly identical copy of SMN1 present in humans, cannot compensate for the loss of SMN1 due to pred...
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| Veröffentlicht in: | Gene Ther |
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| Hauptverfasser: | , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2017
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5623086/ https://ncbi.nlm.nih.gov/pubmed/28485722 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gt.2017.34 |
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