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Biomarker for Spinal Muscular Atrophy: Expression of SMN in Peripheral Blood of SMA Patients and Healthy Controls
Spinal muscular atrophy is caused by a functional deletion of SMN1 on Chromosome 5, which leads to a progressive loss of motor function in affected patients. SMA patients have at least one copy of a similar gene, SMN2, which produces functional SMN protein, although in reduced quantities. The severi...
Autores principales: | Czech, Christian, Tang, Wakana, Bugawan, Teodorica, Mano, Calvin, Horn, Carsten, Iglesias, Victor Alejandro, Fröhner, Stefanie, Zaworski, Phillip G., Paushkin, Sergey, Chen, Karen, Kremer, Thomas |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4607439/ https://www.ncbi.nlm.nih.gov/pubmed/26468953 http://dx.doi.org/10.1371/journal.pone.0139950 |
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