A novel missense variant in EIF2B5 identified in a consanguineous Iranian family with vanishing white matter disease and a brief review of the literature
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
https://link.springer.com/content/pdf/10.1007/s12041-023-01436-8.pdf
Reference23 articles.
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2. Bugiani M., Boor I., Powers J. M., Scheper G. C. and van der Knaap M. S. 2010 Leukoencephalopathy with vanishing white matter: a review. J. Neuropathol. Exp. Neurol. 69, 987–996.
3. Damon-Perriere N., Menegon P., Olivier A., Boespflug-Tanguy O., Niel F., Creveaux I., Dousset V., Brochet B. and Goizet C. 2008 Intra-familial phenotypic heterogeneity in adult onset vanishing white matter disease. Clini. Neurol. Neurosurg. 110, 1068–1071.
4. Elsby R., Heiber J. F., Reid P., Kimball S. R., Pavitt G. D. and Barber G. N. 2011 The alpha subunit of eukaryotic initiation factor 2B (eIF2B) is required for eIF2-mediated translational suppression of vesicular stomatitis virus. J. Virol. 85, 9716–9725.
5. Fogli A., Rodriguez D., Eymard-Pierre E., Bouhour F., Labauge P., Meaney B. F. et al. 2003 Ovarian failure related to eukaryotic initiation factor 2B mutations. Am. J. Hum. Genet. 72, 1544–1550.
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