Identification of a Novel Heterozygous Mutation in the EIF2B4 Gene Associated With Vanishing White Matter Disease

Vanishing white matter disease (VWM) is one of the most common childhood inherited leukoencephalopathies with autosomal recessive inheritance. Mutations in five genes, EIF2B1-5, have been identified as the major cause of VWM. In this study, a targeted gene capture sequencing panel comprising 160 kno...

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Detalles Bibliográficos
Autores principales: Tian, Yun, Liu, Qiong, Zhou, Yafang, Chen, Xiao-Yu, Pan, Yongcheng, Xu, Hongwei, Yang, Zhuanyi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Bioengineering and Biotechnology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9289103/
https://www.ncbi.nlm.nih.gov/pubmed/35860328
http://dx.doi.org/10.3389/fbioe.2022.901452

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