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Developmental Splicing Deregulation in Leukodystrophies Related to EIF2B Mutations
Leukodystrophies (LD) are rare inherited disorders that primarily affect the white matter (WM) of the central nervous system. The large heterogeneity of LD results from the diversity of the genetically determined defects that interfere with glial cells functions. Astrocytes have been identified as t...
Autores principales: | Huyghe, Aurélia, Horzinski, Laetitia, Hénaut, Alain, Gaillard, Marina, Bertini, Enrico, Schiffmann, Raphael, Rodriguez, Diana, Dantal, Yann, Boespflug-Tanguy, Odile, Fogli, Anne |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3380860/ https://www.ncbi.nlm.nih.gov/pubmed/22737209 http://dx.doi.org/10.1371/journal.pone.0038264 |
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