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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Bibliographic Details
Main Authors: Aurélia Huyghe, Laetitia Horzinski, Alain Hénaut, Marina Gaillard, Enrico Bertini, Raphael Schiffmann, Diana Rodriguez, Yann Dantal, Odile Boespflug-Tanguy, Anne Fogli
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2012-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3380860?pdf=render