Functional Studies of MLC1 Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts

Megalencephalic leukoencephalopathy with subcortical cysts (MLC, MIM# 604004) is an autosomal recessive inherited disease mostly resulting from MLC1 mutations. In this study, we finished the functional analysis of MLC1 mutations identified recently in Chinese patients, including five newly described...

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Bibliographische Detailangaben
Hauptverfasser: Xie, Han, Wang, Jingmin, Dhaunchak, Ajit Singh, Shang, Jing, Kou, Liping, Guo, Mangmang, Wu, Ye, Gu, Qiang, Colman, David, Wu, Xiru, Jiang, Yuwu
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2012
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3293920/
https://ncbi.nlm.nih.gov/pubmed/22416245
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0033087
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