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How do SMA-linked mutations of SMN1 lead to structural/functional deficiency of the SMA protein?
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease with dysfunctional α-motor neurons in the anterior horn of the spinal cord. SMA is caused by loss (∼95% of SMA cases) or mutation (∼5% of SMA cases) of the survival motor neuron 1 gene SMN1. As the product of SMN1, SMN is...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Public Library of Science
2017
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5453535/ https://www.ncbi.nlm.nih.gov/pubmed/28570645 http://dx.doi.org/10.1371/journal.pone.0178519 |