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Article

Hydroxyurea enhances <i>SMN2</i> gene expression in spinal muscular atrophy cells

27 Jul 2005

Abstract excerpt

Spinal muscular atrophy (SMA) is a motor neuron disease caused by dysfunction of the survival motor neuron (SMN) gene. Human SMN gene is present in duplicated copies: SMN1 and SMN2. More than 95% of patients with SMA lack a functional SMN1 but retain at least one copy of SMN2. Unlike SMN1, SMN2 is primarily transcribed into truncated messenger RNA and produces low levels of SMN protein. We tested a therapeutic...

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PMID: 16049920
DOI: 10.1002/ana.20548

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Hydroxyurea enhances <i>SMN2</i> gene expression in spinal muscular atrophy cellsPMID 16049920Read ↗

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