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Evidence of a segregation ratio distortion of SMN1 alleles in spinal muscular atrophy

✍ Scribed by Alias, Laura; Barceló, Maria J; Gich, Ignasi; Estapé, Marta; Parra, Juan; Amenedo, Maria; Baiget, Montserrat; Tizzano, Eduardo F


Book ID
110027086
Publisher
Nature Publishing Group
Year
2007
Tongue
English
Weight
96 KB
Volume
15
Category
Article
ISSN
1018-4813

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Neurodevelopmental consequences of Smn d
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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