Deletion and conversion in spinal muscul
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Christine J. Didonato; Susan E. Ingraham; Jerry R. Mendell; Thomas W. Prior; Sha
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Article
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1997
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John Wiley and Sons
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English
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The spinal muscular atrophy-determining gene, survival motor neuron (SMN), is present in two copies, telSMN and cenSMN, which can be distinguished by base-pair changes in exons 7 and 8. The telSMN gene is often absent in spinal muscular atrophy patients, which could be due to deletion or sequence co