Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Huyghe, Aurélia, Horzinski, Laetitia, Hénaut, Alain, Gaillard, Marina, Bertini, Enrico, Schiffmann, Raphael, Rodriguez, Diana, Dantal, Yann, Boespflug-Tanguy, Odile, Fogli, Anne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
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