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Article

Eukaryotic initiation factor 2B (eIF2B) GEF activity as a diagnostic tool for EIF2B-related disorders.

PloS one - 15 Dec 2009

Horzinski Laetitia, Huyghe Aurélia, Cardoso Marie-Céleste, Gonthier Céline, Ouchchane Lemlih, Schiffmann Raphael, Blanc Pierre, Boespflug-Tanguy Odile, Fogli Anne

Abstract excerpt

BACKGROUND: In recent years, the phenotypes of leukodystrophies linked to mutations in the eukaryotic initiation factor 2B genes have been extended, classically called CACH/VWM (Childhood ataxia with cntral hypomyélination/vanishing white matter disorder). The large clinical spectrum observed from the more severe antenatal forms responsible for fetal death to milder adult forms with an onset after 16 years old...

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Identifiers

PMID: 20016818
DOI: 10.1371/journal.pone.0008318
PMCID: PMC2789406

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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