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  • Molecular assay reagents intended to identify mutations in the eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa (EIF2B5) gene, located at chromosome 3q27, which encodes for a subunit of EIF2B. EIF2B catalyzes the exchange of eukaryotic initiation factor 2-bound guanosine diphosphate (GDP) for guanosine triphosphate (GTP). Mutations at this locus have been identified in patients with leukoencephalopathy and ovarioleukodystrophy (vanishing white matter leukodystrophy with ovarian failure) and Cree leukoencephalopathy.
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