Developmental Splicing Deregulation in Leukodystrophies Related to EIF2B Mutations

Abstract

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 the primary target of LD with cystic myelin breakdown… (More)
DOI: 10.1371/journal.pone.0038264

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