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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Detaylı Bibliyografya
Asıl Yazarlar: Huyghe, Aurélia, Horzinski, Laetitia, Hénaut, Alain, Gaillard, Marina, Bertini, Enrico, Schiffmann, Raphael, Rodriguez, Diana, Dantal, Yann, Boespflug-Tanguy, Odile, Fogli, Anne
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Public Library of Science 2012
Konular:
Research Article
Online Erişim: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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