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...

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Detalhes bibliográficos
Main Authors: Huyghe, Aurélia, Horzinski, Laetitia, Hénaut, Alain, Gaillard, Marina, Bertini, Enrico, Schiffmann, Raphael, Rodriguez, Diana, Dantal, Yann, Boespflug-Tanguy, Odile, Fogli, Anne
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2012
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3380860/
https://ncbi.nlm.nih.gov/pubmed/22737209
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0038264
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