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...

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Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2012
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Research Article
Accesso online: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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