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Spinal muscular atrophy (SMA) is a neurodegenerative disease that results in the loss of lower body muscle function. SMA is the second leading genetic cause of death in infants and

Spinal muscular atrophy (SMA) is a neurodegenerative disease that results in the loss of lower body muscle function. SMA is the second leading genetic cause of death in infants and arises from the loss of the Survival of Motor Neuron (SMN) protein. SMN is produced by two genes, smn1 and smn2, that are identical with the exception of a C to T conversion in exon 7 of the smn2 gene. SMA patients lacking the smn1 gene, rely on smn2 for production of SMN.

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    Date Created
    • 2012
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  • Text
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    • Partial requirement for: Ph.D., Arizona State University, 2012
      Note type
      thesis
    • Includes bibliographical references (p. 98-105)
      Note type
      bibliography
    • Field of study: Chemistry

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    by Tracy Niday

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