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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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| Main Authors: | , , , , , , , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Public Library of Science
2012
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| 主題: | |
| 在線閱讀: | 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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