Identification of Novel Roles for the Survival Motor Neuron (Smn) Protein: Implications on Spinal Muscular Atrophy (SMA) Pathogenesis and Therapy
Spinal muscular atrophy (SMA) is the leading genetic cause of death of young children. It is an autosomal recessive disease caused by the mutation and/or the deletion within the ubiquitously expressed survival motor neuron 1 (SMN1) gene. SMA pathology is characterized by spinal cord motor neuron d...
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| Language: | en |
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2012
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| Online Access: | http://hdl.handle.net/10393/22727 |
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