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Article

A feedback loop regulates splicing of the spinal muscular atrophy-modifying gene, SMN2

30 Sept 2010

Abstract excerpt

Spinal muscular atrophy (SMA) is a neurological disorder characterized by motor neuron degeneration and progressive muscle paralysis. The disease is caused by a reduction in survival of motor neuron (SMN) protein resulting from homozygous deletion of the SMN1 gene. SMN protein is also encoded by SMN2. However, splicing of SMN2 exon 7 is defective, and consequently, the majority of the transcripts produce a...

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PMID: 20884664
DOI: 10.1093/hmg/ddq425

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