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Analysis of a read-through promoting compound in a severe mouse model of spinal muscular atrophy

✍ Scribed by Virginia B. Mattis; Cheng-Wei Tom Chang; Christian L. Lorson

Book ID
116774319
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
344 KB
Volume
525
Category
Article
ISSN
0304-3940

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## Abstract Deletions or mutations in __survival of motor neuron 1__ (__SMN1__) cause motor neuron loss and spinal muscular atrophy (SMA), a neuromuscular disorder, with the most severe type manifesting in utero. Whether SMA is a disease of defects in neurodevelopment and/or neuromaintenance remain