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Article

An Intronic Splicing Enhancer Element in Survival Motor Neuron (SMN) Pre-mRNA

25 Apr 2003

Abstract excerpt

Spinal muscular atrophy is caused by the homozygous loss of survival motor neuron 1 (SMN1). SMN2, a nearly identical copy gene, differs from SMN1 only by a single nonpolymorphic C to T transition in exon 7, which leads to alteration of exon 7 splicing; SMN2 leads to exon 7 skipping and expression of a nonfunctional gene product and fails to compensate for the loss of SMN1. The exclusion of SMN exon 7 is critical...

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PMID: 12604607
DOI: 10.1074/jbc.m209271200

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Related research

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An Intronic Splicing Enhancer Element in Survival Motor Neuron (SMN) Pre-mRNAPMID 12604607Read ↗

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