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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Huyghe, Aurélia, Horzinski, Laetitia, Hénaut, Alain, Gaillard, Marina, Bertini, Enrico, Schiffmann, Raphael, Rodriguez, Diana, Dantal, Yann, Boespflug-Tanguy, Odile, Fogli, Anne
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2012
Schlagworte:
Online Zugang: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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