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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Detaylı Bibliyografya
Asıl Yazarlar: Horzinski, Laetitia, Huyghe, Aurélia, Cardoso, Marie-Céleste, Gonthier, Céline, Ouchchane, Lemlih, Schiffmann, Raphael, Blanc, Pierre, Boespflug-Tanguy, Odile, Fogli, Anne
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Public Library of Science 2009
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC2789406/
https://ncbi.nlm.nih.gov/pubmed/20016818
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0008318
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