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Eukaryotic Initiation Factor 2B (eIF2B) GEF Activity as a Diagnostic Tool for EIF2B-Related Disorders

BACKGROUND: In recent years, the phenotypes of leukodystrophies linked to mutations in the eukaryotic initiation factor 2B genes have been extended, classically called CACH/VWM (Childhood ataxia with cntral hypomyélination/vanishing white matter disorder). The large clinical spectrum observed from t...

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Detalles Bibliográficos
Autores principales:	Horzinski, Laetitia, Huyghe, Aurélia, Cardoso, Marie-Céleste, Gonthier, Céline, Ouchchane, Lemlih, Schiffmann, Raphael, Blanc, Pierre, Boespflug-Tanguy, Odile, Fogli, Anne
Formato:	Texto
Lenguaje:	English
Publicado:	Public Library of Science 2009
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2789406/ https://www.ncbi.nlm.nih.gov/pubmed/20016818 http://dx.doi.org/10.1371/journal.pone.0008318

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