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Article

Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients.

European journal of human genetics : EJHG - 1 Jul 2004

Fogli Anne, Schiffmann Raphael, Hugendubler Lynne, Combes Patricia, Bertini Enrico, Rodriguez Diana, Kimball Scot R, Boespflug-Tanguy Odile

Abstract excerpt

Mutations in each of the five eucaryotic initiation factor 2B (eIF2B) subunits have been found in leukodystrophies of various severity: Cree leukoencephalopathy, childhood ataxia with central hypomyelination/leukodystrophy with vanishing white matter and ovarioleukodystrophy. A continuum was observed from fatal infantile forms to adult forms without neurological deterioration. Disease severity was found to...

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Identifiers

PMID: 15054402
DOI: 10.1038/sj.ejhg.5201189

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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