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Refined Characterization of the Expression and Stability of the SMN Gene Products
Spinal muscular atrophy (SMA) is characterized by degeneration of lower motor neurons and caused by mutations of the SMN1 gene. SMN1 is duplicated in a homologous gene called SMN2, which remains present in patients. SMN has an essential role in RNA metabolism, but its role in SMA pathogenesis remain...
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Auteurs principaux: | , , , , , , , , , |
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Format: | Artigo |
Langue: | Inglês |
Publié: |
American Society for Investigative Pathology
2007
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Sujets: | |
Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1988876/ https://ncbi.nlm.nih.gov/pubmed/17717146 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/ajpath.2007.070399 |
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