Fifteen Novel EIF2B1-5 Mutations Identified in Chinese Children with Leukoencephalopathy with Vanishing White Matter and a Long Term Follow-Up

Leukoencephalopathy with vanishing white matter (VWM) is one of the most prevalent inherited childhood white matter disorders, which caused by mutations in each of the five subunits of eukaryotic translation initiation factor 2B (EIF2B1-5). In our study, 34 out of the 36 clinically diagnosed childre...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Zhang, Haihua, Dai, Lifang, Chen, Na, Zang, Lili, Leng, Xuerong, Du, Li, Wang, Jingmin, Jiang, Yuwu, Zhang, Feng, Wu, Xiru, Wu, Ye
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2015
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4356545/
https://ncbi.nlm.nih.gov/pubmed/25761052
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0118001
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