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...

पूर्ण विवरण

ग्रंथसूची विवरण

मुख्य लेखकों:	Han Xie, Jingmin Wang, Ajit Singh Dhaunchak, Jing Shang, Liping Kou, Mangmang Guo, Ye Wu, Qiang Gu, David Colman, Xiru Wu, Yuwu Jiang
स्वरूप:	Artigo
भाषा:	Inglês
प्रकाशित:	Public Library of Science (PLoS) 2012-01-01
श्रृंखला:	PLoS ONE
ऑनलाइन पहुंच:	http://europepmc.org/articles/PMC3293920?pdf=render
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