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Molecular Factors Involved in Spinal Muscular Atrophy Pathways as Possible Disease-modifying Candidates
Spinal Muscular Atrophy (SMA) is a neuromuscular disorder caused by mutations in the SMN1 gene. Being a monogenic disease, it is characterized by high clinical heterogeneity. Variations in penetrance and severity of symptoms, as well as clinical discrepancies between affected family members can resu...
Autores principales: | Maretina, Marianna A., Zheleznyakova, Galina Y., Lanko, Kristina M., Egorova, Anna A., Baranov, Vladislav S., Kiselev, Anton V. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Bentham Science Publishers
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6030859/ https://www.ncbi.nlm.nih.gov/pubmed/30065610 http://dx.doi.org/10.2174/1389202919666180101154916 |
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