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Article

Alternative splicing in spinal muscular atrophy underscores the role of an intron definition model

1 Jul 2011

Abstract excerpt

Humans have two nearly identical copies of the Survival Motor Neuron (SMN) gene: SMN1 and SMN2. The two SMN genes code for identical proteins; however, SMN2 predominantly generates a shorter transcript due to skipping of exon 7, the last coding exon. Skipping of SMN2 exon 7 leads to production of a truncated SMN protein that is highly unstable. The inability of SMN2 to compensate for the loss of SMN1 results in...

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PMID: 21654213
DOI: 10.4161/rna.8.4.16224

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