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Candidate Proteins, Metabolites and Transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study

BACKGROUND: Spinal Muscular Atrophy (SMA) is a neurodegenerative motor neuron disorder resulting from a homozygous mutation of the survival of motor neuron 1 (SMN1) gene. The gene product, SMN protein, functions in RNA biosynthesis in all tissues. In humans, a nearly identical gene, SMN2, rescues an...

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Detalles Bibliográficos
Autores principales: Finkel, Richard S., Crawford, Thomas O., Swoboda, Kathryn J., Kaufmann, Petra, Juhasz, Peter, Li, Xiaohong, Guo, Yu, Li, Rebecca H., Trachtenberg, Felicia, Forrest, Suzanne J., Kobayashi, Dione T., Chen, Karen S., Joyce, Cynthia L., Plasterer, Thomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3338723/
https://www.ncbi.nlm.nih.gov/pubmed/22558154
http://dx.doi.org/10.1371/journal.pone.0035462