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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Detalles Bibliográficos
Autores principales: Zhang, Haihua, Dai, Lifang, Chen, Na, Zang, Lili, Leng, Xuerong, Du, Li, Wang, Jingmin, Jiang, Yuwu, Zhang, Feng, Wu, Xiru, Wu, Ye
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4356545/
https://www.ncbi.nlm.nih.gov/pubmed/25761052
http://dx.doi.org/10.1371/journal.pone.0118001

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