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Spliceosomal small nuclear ribonucleoprotein biogenesis defects and motor neuron selectivity in spinal muscular atrophy

✍ Scribed by Eileen Workman; Stephen J. Kolb; Daniel J. Battle


Book ID
113506054
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
422 KB
Volume
1462
Category
Article
ISSN
0006-8993

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## Abstract The hereditary neurodegenerative disease spinal muscular atrophy (SMA) with childhood onset is one of the most common genetic causes of infant mortality. The disease is characterized by selective loss of spinal cord motor neurons leading to muscle atrophy and is the result of mutations