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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Váldodahkkit:	Han Xie, Jingmin Wang, Ajit Singh Dhaunchak, Jing Shang, Liping Kou, Mangmang Guo, Ye Wu, Qiang Gu, David Colman, Xiru Wu, Yuwu Jiang
Materiálatiipa:	Artigo
Giella:	Inglês
Almmustuhtton:	Public Library of Science (PLoS) 2012-01-01
Ráidu:	PLoS ONE
Liŋkkat:	http://europepmc.org/articles/PMC3293920?pdf=render
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