Evaluation of SMN Protein, Transcript, and Copy Number in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study

BACKGROUND: The universal presence of a gene (SMN2) nearly identical to the mutated SMN1 gene responsible for Spinal Muscular Atrophy (SMA) has proved an enticing incentive to therapeutics development. Early disappointments from putative SMN-enhancing agent clinical trials have increased interest in...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Crawford, Thomas O., Paushkin, Sergey V., Kobayashi, Dione T., Forrest, Suzanne J., Joyce, Cynthia L., Finkel, Richard S., Kaufmann, Petra, Swoboda, Kathryn J., Tiziano, Danilo, Lomastro, Rosa, Li, Rebecca H., Trachtenberg, Felicia L., Plasterer, Thomas, Chen, Karen S.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Public Library of Science 2012
विषय:
Research Article
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC3338744/
https://ncbi.nlm.nih.gov/pubmed/22558076
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0033572
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