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Correlation Between Genotype and Age of Onset in Leukoencephalopathy With Vanishing White Matter

Purpose: Leukoencephalopathy with vanishing white matter (VWM) is an autosomal recessive leukoencephalopathy caused by mutations in any of the five genes encoding the subunits of eukaryotic translation initiation factor 2B (eIF2B). The severity of the disease varies considerably, and its genotypic-p...

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Detalles Bibliográficos
Autores principales: Deng, Jiong, Zhou, Ling, Zhang, Jie, Chang, Xuting, Jiang, Yuwu, Wang, Jingmin, Wu, Ye
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8564072/
https://www.ncbi.nlm.nih.gov/pubmed/34745209
http://dx.doi.org/10.3389/fgene.2021.729777