Ten Novel Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts and a Long-Term Follow-Up Research

OBJECTIVE: Megalencephalic leukoencephalopathy with subcortical cysts (MLC, OMIM 604004) is a rare neurological deterioration disease. We aimed to clarify clinical and genetic features of Chinese MLC patients. METHODS: Clinical information and peripheral venous blood of 20 patients and their familie...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:PLoS One
Prif Awduron: Cao, Binbin, Yan, Huifang, Guo, Mangmang, Xie, Han, Wu, Ye, Gu, Qiang, Xiao, Jiangxi, Shang, Jing, Yang, Yanling, Xiong, Hui, Niu, Zhengping, Wu, Xiru, Jiang, Yuwu, Wang, Jingmin
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Public Library of Science 2016
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4913951/
https://ncbi.nlm.nih.gov/pubmed/27322623
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0157258
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