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Autor:
Richard S Finkel, Thomas O Crawford, Kathryn J Swoboda, Petra Kaufmann, Peter Juhasz, Xiaohong Li, Yu Guo, Rebecca H Li, Felicia Trachtenberg, Suzanne J Forrest, Dione T Kobayashi, Karen S Chen, Cynthia L Joyce, Thomas Plasterer, Pilot Study of Biomarkers for Spinal Muscular Atrophy Trial Group
Publikováno v:
PLoS ONE, Vol 7, Iss 4, p e35462 (2012)
PLoS ONE
PLoS ONE
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