> Reagents, Molecular Assay, Gene Anomaly, Mutation, EIF2B1
Reagents, Molecular Assay, Gene Anomaly, Mutation, EIF2B1
Definition : Molecular assay reagents intended to identify mutations in the eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa (EIF2B1) gene, located at chromosome 12q24.2-q24.31, that 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 with vanishing white matter (VWM).
Entry Terms : "Late-Onset Leukodystrophy Gene Mutation Detection Reagents" , "Infantile Leukodystrophy Gene Mutation Detection Reagents" , "Classic Childhood Leukodystrophy Gene Mutation Detection Reagents" , "Antenatal Leukodystrophy Gene Mutation Detection Reagents" , "EIF2B-Related Leukodystrophy Gene Mutation Detection Reagents" , "Leukoencephalopathy with Vanishing White Matter Gene Mutation Detection Reagents" , "EIF2B1 Gene Mutation Detection Reagents"
UMDC code : 24392
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