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...

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Enregistré dans:
Détails bibliographiques
Publié dans:PLoS One
Auteurs principaux: Czech, Christian, Tang, Wakana, Bugawan, Teodorica, Mano, Calvin, Horn, Carsten, Iglesias, Victor Alejandro, Fröhner, Stefanie, Zaworski, Phillip G., Paushkin, Sergey, Chen, Karen, Kremer, Thomas
Format: Artigo
Langue:Inglês
Publié: Public Library of Science 2015
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4607439/
https://ncbi.nlm.nih.gov/pubmed/26468953
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0139950
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